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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2981582

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:121592803 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.396044 (114414/288892, ALFA)
A=0.418762 (110842/264690, TOPMED)
A=0.419230 (58636/139866, GnomAD) (+ 21 more)
A=0.40912 (32190/78682, PAGE_STUDY)
A=0.27560 (7788/28258, 14KJPN)
A=0.27822 (4663/16760, 8.3KJPN)
A=0.4052 (2595/6404, 1000G_30x)
A=0.4038 (2022/5008, 1000G)
A=0.3609 (1617/4480, Estonian)
A=0.3825 (1474/3854, ALSPAC)
A=0.3954 (1466/3708, TWINSUK)
A=0.2696 (790/2930, KOREAN)
A=0.4223 (799/1892, HapMap)
A=0.2800 (513/1832, Korea1K)
A=0.4407 (498/1130, Daghestan)
A=0.407 (406/998, GoNL)
A=0.328 (258/786, PRJEB37584)
A=0.412 (247/600, NorthernSweden)
A=0.259 (127/490, SGDP_PRJ)
A=0.375 (81/216, Qatari)
A=0.371 (78/210, Vietnamese)
G=0.45 (36/80, Ancient Sardinia)
A=0.25 (14/56, Siberian)
A=0.40 (16/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGFR2 : Intron Variant
Publications
229 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele
Total Global 288986 A=0.396047 G=0.603953
European Sub 252928 A=0.393515 G=0.606485
African Sub 11332 A=0.48112 G=0.51888
African Others Sub 392 A=0.551 G=0.449
African American Sub 10940 A=0.47861 G=0.52139
Asian Sub 3944 A=0.2898 G=0.7102
East Asian Sub 3156 A=0.2909 G=0.7091
Other Asian Sub 788 A=0.286 G=0.714
Latin American 1 Sub 1126 A=0.3872 G=0.6128
Latin American 2 Sub 4740 A=0.4006 G=0.5994
South Asian Sub 380 A=0.350 G=0.650
Other Sub 14536 A=0.40300 G=0.59700


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 288892 A=0.396044 G=0.603956
Allele Frequency Aggregator European Sub 252852 A=0.393515 G=0.606485
Allele Frequency Aggregator Other Sub 14518 A=0.40295 G=0.59705
Allele Frequency Aggregator African Sub 11332 A=0.48112 G=0.51888
Allele Frequency Aggregator Latin American 2 Sub 4740 A=0.4006 G=0.5994
Allele Frequency Aggregator Asian Sub 3944 A=0.2898 G=0.7102
Allele Frequency Aggregator Latin American 1 Sub 1126 A=0.3872 G=0.6128
Allele Frequency Aggregator South Asian Sub 380 A=0.350 G=0.650
TopMed Global Study-wide 264690 A=0.418762 G=0.581238
gnomAD - Genomes Global Study-wide 139866 A=0.419230 G=0.580770
gnomAD - Genomes European Sub 75772 A=0.39219 G=0.60781
gnomAD - Genomes African Sub 41872 A=0.47927 G=0.52073
gnomAD - Genomes American Sub 13622 A=0.40611 G=0.59389
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.4233 G=0.5767
gnomAD - Genomes East Asian Sub 3128 A=0.3194 G=0.6806
gnomAD - Genomes Other Sub 2148 A=0.4250 G=0.5750
The PAGE Study Global Study-wide 78682 A=0.40912 G=0.59088
The PAGE Study AfricanAmerican Sub 32506 A=0.47065 G=0.52935
The PAGE Study Mexican Sub 10806 A=0.38220 G=0.61780
The PAGE Study Asian Sub 8318 A=0.2711 G=0.7289
The PAGE Study PuertoRican Sub 7916 A=0.4377 G=0.5623
The PAGE Study NativeHawaiian Sub 4534 A=0.2417 G=0.7583
The PAGE Study Cuban Sub 4230 A=0.3931 G=0.6069
The PAGE Study Dominican Sub 3828 A=0.4410 G=0.5590
The PAGE Study CentralAmerican Sub 2450 A=0.4098 G=0.5902
The PAGE Study SouthAmerican Sub 1980 A=0.4025 G=0.5975
The PAGE Study NativeAmerican Sub 1260 A=0.4008 G=0.5992
The PAGE Study SouthAsian Sub 854 A=0.337 G=0.663
14KJPN JAPANESE Study-wide 28258 A=0.27560 G=0.72440
8.3KJPN JAPANESE Study-wide 16760 A=0.27822 G=0.72178
1000Genomes_30x Global Study-wide 6404 A=0.4052 G=0.5948
1000Genomes_30x African Sub 1786 A=0.4933 G=0.5067
1000Genomes_30x Europe Sub 1266 A=0.4202 G=0.5798
1000Genomes_30x South Asian Sub 1202 A=0.3361 G=0.6639
1000Genomes_30x East Asian Sub 1170 A=0.3120 G=0.6880
1000Genomes_30x American Sub 980 A=0.421 G=0.579
1000Genomes Global Study-wide 5008 A=0.4038 G=0.5962
1000Genomes African Sub 1322 A=0.4947 G=0.5053
1000Genomes East Asian Sub 1008 A=0.3165 G=0.6835
1000Genomes Europe Sub 1006 A=0.4205 G=0.5795
1000Genomes South Asian Sub 978 A=0.344 G=0.656
1000Genomes American Sub 694 A=0.418 G=0.582
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3609 G=0.6391
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3825 G=0.6175
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3954 G=0.6046
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2696 G=0.7304
HapMap Global Study-wide 1892 A=0.4223 G=0.5777
HapMap American Sub 770 A=0.409 G=0.591
HapMap African Sub 692 A=0.499 G=0.501
HapMap Asian Sub 254 A=0.272 G=0.728
HapMap Europe Sub 176 A=0.398 G=0.602
Korean Genome Project KOREAN Study-wide 1832 A=0.2800 G=0.7200
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.4407 G=0.5593
Genome-wide autozygosity in Daghestan Daghestan Sub 626 A=0.454 G=0.546
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.514 G=0.486
Genome-wide autozygosity in Daghestan Central Asia Sub 120 A=0.383 G=0.617
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.454 G=0.546
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.26 G=0.74
Genome-wide autozygosity in Daghestan Caucasus Sub 34 A=0.59 G=0.41
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.407 G=0.593
CNV burdens in cranial meningiomas Global Study-wide 786 A=0.328 G=0.672
CNV burdens in cranial meningiomas CRM Sub 786 A=0.328 G=0.672
Northern Sweden ACPOP Study-wide 600 A=0.412 G=0.588
SGDP_PRJ Global Study-wide 490 A=0.259 G=0.741
Qatari Global Study-wide 216 A=0.375 G=0.625
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.371 G=0.629
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 A=0.55 G=0.45
Siberian Global Study-wide 56 A=0.25 G=0.75
The Danish reference pan genome Danish Study-wide 40 A=0.40 G=0.60
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 10 NC_000010.11:g.121592803A>G
GRCh37.p13 chr 10 NC_000010.10:g.123352317A>G
FGFR2 RefSeqGene (LRG_994) NG_012449.2:g.10656T>C
Gene: FGFR2, fibroblast growth factor receptor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGFR2 transcript variant 1 NM_000141.5:c.109+906T>C N/A Intron Variant
FGFR2 transcript variant 3 NM_001144913.1:c.109+906T…

NM_001144913.1:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 4 NM_001144914.1:c.109+906T…

NM_001144914.1:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 5 NM_001144915.2:c.109+906T…

NM_001144915.2:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 6 NM_001144916.2:c.109+906T…

NM_001144916.2:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 7 NM_001144917.2:c.109+906T…

NM_001144917.2:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 8 NM_001144918.2:c.109+906T…

NM_001144918.2:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 9 NM_001144919.2:c.109+906T…

NM_001144919.2:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 16 NM_001320658.2:c.109+906T…

NM_001320658.2:c.109+906T>C

N/A Intron Variant
FGFR2 transcript variant 2 NM_022970.3:c.109+906T>C N/A Intron Variant
FGFR2 transcript variant 11 NM_023029.2:c.109+906T>C N/A Intron Variant
FGFR2 transcript variant 15 NM_001320654.2:c. N/A Genic Upstream Transcript Variant
FGFR2 transcript variant 14 NR_073009.2:n. N/A Intron Variant
FGFR2 transcript variant X1 XM_006717708.4:c.166+906T…

XM_006717708.4:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X2 XM_006717710.5:c.166+906T…

XM_006717710.5:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X3 XM_017015920.3:c.166+906T…

XM_017015920.3:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X4 XM_017015921.3:c.166+906T…

XM_017015921.3:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X10 XM_017015924.3:c.166+906T…

XM_017015924.3:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X11 XM_017015925.3:c.166+906T…

XM_017015925.3:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X6 XM_024447887.2:c.166+906T…

XM_024447887.2:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X7 XM_024447888.2:c.166+906T…

XM_024447888.2:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X8 XM_024447889.2:c.166+906T…

XM_024447889.2:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X5 XM_024447890.2:c.166+906T…

XM_024447890.2:c.166+906T>C

N/A Intron Variant
FGFR2 transcript variant X9 XM_024447891.2:c.166+906T…

XM_024447891.2:c.166+906T>C

N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: G (allele ID: 45591 )
ClinVar Accession Disease Names Clinical Significance
RCV002054528.4 FGFR2 related craniosynostosis Benign
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 10 NC_000010.11:g.121592803= NC_000010.11:g.121592803A>G
GRCh37.p13 chr 10 NC_000010.10:g.123352317= NC_000010.10:g.123352317A>G
FGFR2 RefSeqGene (LRG_994) NG_012449.2:g.10656= NG_012449.2:g.10656T>C
FGFR2 transcript variant 1 NM_000141.4:c.109+906= NM_000141.4:c.109+906T>C
FGFR2 transcript variant 1 NM_000141.5:c.109+906= NM_000141.5:c.109+906T>C
FGFR2 transcript variant 3 NM_001144913.1:c.109+906= NM_001144913.1:c.109+906T>C
FGFR2 transcript variant 4 NM_001144914.1:c.109+906= NM_001144914.1:c.109+906T>C
FGFR2 transcript variant 5 NM_001144915.1:c.109+906= NM_001144915.1:c.109+906T>C
FGFR2 transcript variant 5 NM_001144915.2:c.109+906= NM_001144915.2:c.109+906T>C
FGFR2 transcript variant 6 NM_001144916.1:c.109+906= NM_001144916.1:c.109+906T>C
FGFR2 transcript variant 6 NM_001144916.2:c.109+906= NM_001144916.2:c.109+906T>C
FGFR2 transcript variant 7 NM_001144917.1:c.109+906= NM_001144917.1:c.109+906T>C
FGFR2 transcript variant 7 NM_001144917.2:c.109+906= NM_001144917.2:c.109+906T>C
FGFR2 transcript variant 8 NM_001144918.1:c.109+906= NM_001144918.1:c.109+906T>C
FGFR2 transcript variant 8 NM_001144918.2:c.109+906= NM_001144918.2:c.109+906T>C
FGFR2 transcript variant 9 NM_001144919.1:c.109+906= NM_001144919.1:c.109+906T>C
FGFR2 transcript variant 9 NM_001144919.2:c.109+906= NM_001144919.2:c.109+906T>C
FGFR2 transcript variant 16 NM_001320658.2:c.109+906= NM_001320658.2:c.109+906T>C
FGFR2 transcript variant 2 NM_022970.3:c.109+906= NM_022970.3:c.109+906T>C
FGFR2 transcript variant 11 NM_023029.2:c.109+906= NM_023029.2:c.109+906T>C
FGFR2 transcript variant X1 XM_006717708.4:c.166+906= XM_006717708.4:c.166+906T>C
FGFR2 transcript variant X2 XM_006717710.5:c.166+906= XM_006717710.5:c.166+906T>C
FGFR2 transcript variant X3 XM_017015920.3:c.166+906= XM_017015920.3:c.166+906T>C
FGFR2 transcript variant X4 XM_017015921.3:c.166+906= XM_017015921.3:c.166+906T>C
FGFR2 transcript variant X10 XM_017015924.3:c.166+906= XM_017015924.3:c.166+906T>C
FGFR2 transcript variant X11 XM_017015925.3:c.166+906= XM_017015925.3:c.166+906T>C
FGFR2 transcript variant X6 XM_024447887.2:c.166+906= XM_024447887.2:c.166+906T>C
FGFR2 transcript variant X7 XM_024447888.2:c.166+906= XM_024447888.2:c.166+906T>C
FGFR2 transcript variant X8 XM_024447889.2:c.166+906= XM_024447889.2:c.166+906T>C
FGFR2 transcript variant X5 XM_024447890.2:c.166+906= XM_024447890.2:c.166+906T>C
FGFR2 transcript variant X9 XM_024447891.2:c.166+906= XM_024447891.2:c.166+906T>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

157 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4196009 Nov 05, 2001 (101)
2 COX ss4383844 Mar 26, 2002 (103)
3 BCM_SSAHASNP ss10590154 Jul 11, 2003 (116)
4 WI_SSAHASNP ss12067027 Jul 11, 2003 (116)
5 CSHL-HAPMAP ss19878615 Feb 27, 2004 (120)
6 SSAHASNP ss20699878 Apr 05, 2004 (121)
7 PERLEGEN ss23605537 Sep 20, 2004 (123)
8 ABI ss38524476 Mar 15, 2006 (126)
9 PERLEGEN ss69093877 May 18, 2007 (127)
10 STRUEWING ss71651721 May 21, 2007 (130)
11 ILLUMINA ss74972407 Dec 07, 2007 (129)
12 AFFY ss76583667 Dec 07, 2007 (129)
13 KRIBB_YJKIM ss80746050 Dec 14, 2007 (130)
14 HGSV ss81629183 Dec 14, 2007 (130)
15 HGSV ss81681437 Dec 14, 2007 (130)
16 HGSV ss84217602 Dec 14, 2007 (130)
17 HUMANGENOME_JCVI ss97690747 Feb 03, 2009 (130)
18 SNP500CANCER ss105440200 Feb 03, 2009 (130)
19 BGI ss106707859 Feb 03, 2009 (130)
20 1000GENOMES ss109812842 Jan 24, 2009 (130)
21 1000GENOMES ss113931414 Jan 25, 2009 (130)
22 KRIBB_YJKIM ss119452166 Dec 01, 2009 (131)
23 ENSEMBL ss131849495 Dec 01, 2009 (131)
24 GMI ss155640126 Dec 01, 2009 (131)
25 ILLUMINA ss160604438 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss168780501 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss171248228 Jul 04, 2010 (132)
28 ILLUMINA ss173546621 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss174785842 Jul 04, 2010 (132)
30 PAGE_STUDY ss181341901 Jul 04, 2010 (132)
31 BUSHMAN ss202114964 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss207374847 Jul 04, 2010 (132)
33 1000GENOMES ss224983724 Jul 14, 2010 (132)
34 1000GENOMES ss235363912 Jul 15, 2010 (132)
35 1000GENOMES ss242034432 Jul 15, 2010 (132)
36 GMI ss280803156 May 04, 2012 (137)
37 PJP ss290948691 May 09, 2011 (134)
38 ILLUMINA ss410927685 Sep 17, 2011 (135)
39 PAGE_STUDY ss469414480 May 04, 2012 (137)
40 PAGE_STUDY ss469996489 May 04, 2012 (137)
41 ILLUMINA ss480734226 May 04, 2012 (137)
42 ILLUMINA ss480750009 May 04, 2012 (137)
43 ILLUMINA ss481632131 Sep 08, 2015 (146)
44 ILLUMINA ss485161810 May 04, 2012 (137)
45 EXOME_CHIP ss491441433 May 04, 2012 (137)
46 ILLUMINA ss537154995 Sep 08, 2015 (146)
47 TISHKOFF ss562260226 Apr 25, 2013 (138)
48 SSMP ss657492375 Apr 25, 2013 (138)
49 ILLUMINA ss778513881 Sep 08, 2015 (146)
50 ILLUMINA ss780684129 Sep 08, 2015 (146)
51 ILLUMINA ss783027161 Sep 08, 2015 (146)
52 ILLUMINA ss783357559 Sep 08, 2015 (146)
53 ILLUMINA ss783986964 Sep 08, 2015 (146)
54 CLINVAR ss831878788 Nov 05, 2013 (136)
55 ILLUMINA ss832284748 Sep 08, 2015 (146)
56 ILLUMINA ss833970180 Sep 08, 2015 (146)
57 EVA-GONL ss988003899 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1077358634 Aug 21, 2014 (142)
59 1000GENOMES ss1339378413 Aug 21, 2014 (142)
60 HAMMER_LAB ss1397594591 Sep 08, 2015 (146)
61 DDI ss1426467758 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1575402325 Apr 01, 2015 (144)
63 EVA_DECODE ss1597683038 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1625605694 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1668599727 Apr 01, 2015 (144)
66 EVA_SVP ss1713217801 Apr 01, 2015 (144)
67 ILLUMINA ss1751951486 Sep 08, 2015 (146)
68 ILLUMINA ss1751951487 Sep 08, 2015 (146)
69 HAMMER_LAB ss1806604686 Sep 08, 2015 (146)
70 ILLUMINA ss1917852390 Feb 12, 2016 (147)
71 WEILL_CORNELL_DGM ss1931361777 Feb 12, 2016 (147)
72 ILLUMINA ss1946295211 Feb 12, 2016 (147)
73 ILLUMINA ss1959301178 Feb 12, 2016 (147)
74 GENOMED ss1967243413 Jul 19, 2016 (147)
75 JJLAB ss2026417697 Sep 14, 2016 (149)
76 ILLUMINA ss2094789373 Dec 20, 2016 (150)
77 ILLUMINA ss2095017822 Dec 20, 2016 (150)
78 USC_VALOUEV ss2154694917 Dec 20, 2016 (150)
79 HUMAN_LONGEVITY ss2178726637 Dec 20, 2016 (150)
80 SYSTEMSBIOZJU ss2627675782 Nov 08, 2017 (151)
81 ILLUMINA ss2632772623 Nov 08, 2017 (151)
82 ILLUMINA ss2632772624 Nov 08, 2017 (151)
83 ILLUMINA ss2635020002 Nov 08, 2017 (151)
84 ILLUMINA ss2635020003 Nov 08, 2017 (151)
85 GRF ss2698956109 Nov 08, 2017 (151)
86 ILLUMINA ss2710722945 Nov 08, 2017 (151)
87 GNOMAD ss2894272913 Nov 08, 2017 (151)
88 AFFY ss2984925575 Nov 08, 2017 (151)
89 AFFY ss2985573693 Nov 08, 2017 (151)
90 SWEGEN ss3007274302 Nov 08, 2017 (151)
91 ILLUMINA ss3021282738 Nov 08, 2017 (151)
92 BIOINF_KMB_FNS_UNIBA ss3026997949 Nov 08, 2017 (151)
93 CSHL ss3349347416 Nov 08, 2017 (151)
94 ILLUMINA ss3626552452 Oct 12, 2018 (152)
95 ILLUMINA ss3626552453 Oct 12, 2018 (152)
96 ILLUMINA ss3630794291 Oct 12, 2018 (152)
97 ILLUMINA ss3632967750 Oct 12, 2018 (152)
98 ILLUMINA ss3633665696 Oct 12, 2018 (152)
99 ILLUMINA ss3634428033 Oct 12, 2018 (152)
100 ILLUMINA ss3634428034 Oct 12, 2018 (152)
101 ILLUMINA ss3635357784 Oct 12, 2018 (152)
102 ILLUMINA ss3636112809 Oct 12, 2018 (152)
103 ILLUMINA ss3637108538 Oct 12, 2018 (152)
104 ILLUMINA ss3637878746 Oct 12, 2018 (152)
105 ILLUMINA ss3640135374 Oct 12, 2018 (152)
106 ILLUMINA ss3640135375 Oct 12, 2018 (152)
107 ILLUMINA ss3641007803 Oct 12, 2018 (152)
108 ILLUMINA ss3641302159 Oct 12, 2018 (152)
109 ILLUMINA ss3642879572 Oct 12, 2018 (152)
110 ILLUMINA ss3644547981 Oct 12, 2018 (152)
111 URBANLAB ss3649484749 Oct 12, 2018 (152)
112 ILLUMINA ss3651642390 Oct 12, 2018 (152)
113 ILLUMINA ss3651642391 Oct 12, 2018 (152)
114 ILLUMINA ss3653696835 Oct 12, 2018 (152)
115 EGCUT_WGS ss3674693315 Jul 13, 2019 (153)
116 EVA_DECODE ss3690836827 Jul 13, 2019 (153)
117 ILLUMINA ss3725195676 Jul 13, 2019 (153)
118 ACPOP ss3737747337 Jul 13, 2019 (153)
119 ILLUMINA ss3744372754 Jul 13, 2019 (153)
120 ILLUMINA ss3744729000 Jul 13, 2019 (153)
121 ILLUMINA ss3744729001 Jul 13, 2019 (153)
122 EVA ss3748702163 Jul 13, 2019 (153)
123 PAGE_CC ss3771588546 Jul 13, 2019 (153)
124 ILLUMINA ss3772229232 Jul 13, 2019 (153)
125 ILLUMINA ss3772229233 Jul 13, 2019 (153)
126 PACBIO ss3786809588 Jul 13, 2019 (153)
127 PACBIO ss3791968613 Jul 13, 2019 (153)
128 PACBIO ss3796850754 Jul 13, 2019 (153)
129 KHV_HUMAN_GENOMES ss3814059434 Jul 13, 2019 (153)
130 EVA ss3832372541 Apr 26, 2020 (154)
131 EVA ss3839727673 Apr 26, 2020 (154)
132 EVA ss3845202456 Apr 26, 2020 (154)
133 SGDP_PRJ ss3875220396 Apr 26, 2020 (154)
134 KRGDB ss3923399818 Apr 26, 2020 (154)
135 KOGIC ss3968829535 Apr 26, 2020 (154)
136 EVA ss3984642209 Apr 26, 2021 (155)
137 EVA ss3985505515 Apr 26, 2021 (155)
138 EVA ss4017512275 Apr 26, 2021 (155)
139 TOPMED ss4869198206 Apr 26, 2021 (155)
140 TOMMO_GENOMICS ss5199827882 Apr 26, 2021 (155)
141 1000G_HIGH_COVERAGE ss5285742554 Oct 16, 2022 (156)
142 EVA ss5315508837 Oct 16, 2022 (156)
143 EVA ss5396545637 Oct 16, 2022 (156)
144 HUGCELL_USP ss5481137875 Oct 16, 2022 (156)
145 1000G_HIGH_COVERAGE ss5580559704 Oct 16, 2022 (156)
146 SANFORD_IMAGENETICS ss5624260940 Oct 16, 2022 (156)
147 SANFORD_IMAGENETICS ss5650254514 Oct 16, 2022 (156)
148 TOMMO_GENOMICS ss5746300922 Oct 16, 2022 (156)
149 EVA ss5799827535 Oct 16, 2022 (156)
150 YY_MCH ss5811952461 Oct 16, 2022 (156)
151 EVA ss5825066767 Oct 16, 2022 (156)
152 EVA ss5847381557 Oct 16, 2022 (156)
153 EVA ss5847612794 Oct 16, 2022 (156)
154 EVA ss5849775095 Oct 16, 2022 (156)
155 EVA ss5880848713 Oct 16, 2022 (156)
156 EVA ss5941561313 Oct 16, 2022 (156)
157 EVA ss5979341577 Oct 16, 2022 (156)
158 1000Genomes NC_000010.10 - 123352317 Oct 12, 2018 (152)
159 1000Genomes_30x NC_000010.11 - 121592803 Oct 16, 2022 (156)
160 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 123352317 Oct 12, 2018 (152)
161 Genome-wide autozygosity in Daghestan NC_000010.9 - 123342307 Apr 26, 2020 (154)
162 Genetic variation in the Estonian population NC_000010.10 - 123352317 Oct 12, 2018 (152)
163 The Danish reference pan genome NC_000010.10 - 123352317 Apr 26, 2020 (154)
164 gnomAD - Genomes NC_000010.11 - 121592803 Apr 26, 2021 (155)
165 Genome of the Netherlands Release 5 NC_000010.10 - 123352317 Apr 26, 2020 (154)
166 HapMap NC_000010.11 - 121592803 Apr 26, 2020 (154)
167 KOREAN population from KRGDB NC_000010.10 - 123352317 Apr 26, 2020 (154)
168 Korean Genome Project NC_000010.11 - 121592803 Apr 26, 2020 (154)
169 Northern Sweden NC_000010.10 - 123352317 Jul 13, 2019 (153)
170 The PAGE Study NC_000010.11 - 121592803 Jul 13, 2019 (153)
171 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 123352317 Apr 26, 2021 (155)
172 CNV burdens in cranial meningiomas NC_000010.10 - 123352317 Apr 26, 2021 (155)
173 Qatari NC_000010.10 - 123352317 Apr 26, 2020 (154)
174 SGDP_PRJ NC_000010.10 - 123352317 Apr 26, 2020 (154)
175 Siberian NC_000010.10 - 123352317 Apr 26, 2020 (154)
176 8.3KJPN NC_000010.10 - 123352317 Apr 26, 2021 (155)
177 14KJPN NC_000010.11 - 121592803 Oct 16, 2022 (156)
178 TopMed NC_000010.11 - 121592803 Apr 26, 2021 (155)
179 UK 10K study - Twins NC_000010.10 - 123352317 Oct 12, 2018 (152)
180 A Vietnamese Genetic Variation Database NC_000010.10 - 123352317 Jul 13, 2019 (153)
181 ALFA NC_000010.11 - 121592803 Apr 26, 2021 (155)
182 ClinVar RCV002054528.4 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs45631640 May 23, 2008 (130)
rs56718061 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81629183, ss81681437, ss84217602 NC_000010.8:123342306:A:G NC_000010.11:121592802:A:G (self)
65951, ss76583667, ss109812842, ss113931414, ss168780501, ss171248228, ss174785842, ss202114964, ss207374847, ss280803156, ss290948691, ss480734226, ss1397594591, ss1597683038, ss1713217801, ss2635020002, ss2635020003, ss3642879572 NC_000010.9:123342306:A:G NC_000010.11:121592802:A:G (self)
51836866, 28796322, 20431563, 2359111, 12833607, 30577212, 11032202, 731442, 191679, 13403707, 27237376, 7211271, 57797189, 28796322, 6389751, ss224983724, ss235363912, ss242034432, ss480750009, ss481632131, ss485161810, ss491441433, ss537154995, ss562260226, ss657492375, ss778513881, ss780684129, ss783027161, ss783357559, ss783986964, ss832284748, ss833970180, ss988003899, ss1077358634, ss1339378413, ss1426467758, ss1575402325, ss1625605694, ss1668599727, ss1751951486, ss1751951487, ss1806604686, ss1917852390, ss1931361777, ss1946295211, ss1959301178, ss1967243413, ss2026417697, ss2094789373, ss2095017822, ss2154694917, ss2627675782, ss2632772623, ss2632772624, ss2698956109, ss2710722945, ss2894272913, ss2984925575, ss2985573693, ss3007274302, ss3021282738, ss3349347416, ss3626552452, ss3626552453, ss3630794291, ss3632967750, ss3633665696, ss3634428033, ss3634428034, ss3635357784, ss3636112809, ss3637108538, ss3637878746, ss3640135374, ss3640135375, ss3641007803, ss3641302159, ss3644547981, ss3651642390, ss3651642391, ss3653696835, ss3674693315, ss3737747337, ss3744372754, ss3744729000, ss3744729001, ss3748702163, ss3772229232, ss3772229233, ss3786809588, ss3791968613, ss3796850754, ss3832372541, ss3839727673, ss3875220396, ss3923399818, ss3984642209, ss3985505515, ss4017512275, ss5199827882, ss5315508837, ss5396545637, ss5624260940, ss5650254514, ss5799827535, ss5825066767, ss5847381557, ss5847612794, ss5941561313, ss5979341577 NC_000010.10:123352316:A:G NC_000010.11:121592802:A:G (self)
RCV002054528.4, 68085639, 366226563, 510256, 25207536, 810015, 80138026, 84743861, 12789307823, ss831878788, ss2178726637, ss3026997949, ss3649484749, ss3690836827, ss3725195676, ss3771588546, ss3814059434, ss3845202456, ss3968829535, ss4869198206, ss5285742554, ss5481137875, ss5580559704, ss5746300922, ss5811952461, ss5849775095, ss5880848713 NC_000010.11:121592802:A:G NC_000010.11:121592802:A:G (self)
ss10590154, ss12067027 NT_030059.10:41790874:A:G NC_000010.11:121592802:A:G (self)
ss19878615, ss20699878 NT_030059.11:42100842:A:G NC_000010.11:121592802:A:G (self)
ss4196009, ss4383844, ss23605537, ss38524476, ss69093877, ss71651721, ss74972407, ss80746050, ss97690747, ss105440200, ss106707859, ss119452166, ss131849495, ss155640126, ss160604438, ss173546621, ss181341901, ss410927685, ss469414480, ss469996489 NT_030059.13:74156780:A:G NC_000010.11:121592802:A:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

229 citations for rs2981582
PMID Title Author Year Journal
17529967 Genome-wide association study identifies novel breast cancer susceptibility loci. Easton DF et al. 2007 Nature
17529973 A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Hunter DJ et al. 2007 Nature genetics
17997823 Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases. Huijts PE et al. 2007 Breast cancer research
18224312 Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Brockmöller J et al. 2008 European journal of clinical pharmacology
18285324 Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk. Zhao ZZ et al. 2008 Human reproduction (Oxford, England)
18326623 Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Gold B et al. 2008 Proceedings of the National Academy of Sciences of the United States of America
18355772 Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. Antoniou AC et al. 2008 American journal of human genetics
18437204 Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. Garcia-Closas M et al. 2008 PLoS genetics
18462018 Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. Meyer KB et al. 2008 PLoS biology
18478591 Studies of genes in the FGF signaling pathway and oral clefts with or without dental anomalies. Menezes R et al. 2008 American journal of medical genetics. Part A
18483326 FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populations. Raskin L et al. 2008 Cancer epidemiology, biomarkers & prevention
18535005 The search for genes contributing to endometriosis risk. Montgomery GW et al. 2008 Human reproduction update
18612136 Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. Gail MH et al. 2008 Journal of the National Cancer Institute
18681954 Breast cancer susceptibility loci and mammographic density. Tamimi RM et al. 2008 Breast cancer research
18708391 Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists. Bhatti P et al. 2008 Cancer epidemiology, biomarkers & prevention
18772892 Can genes for mammographic density inform cancer aetiology? Kelemen LE et al. 2008 Nature reviews. Cancer
18785201 Novel breast cancer risk alleles and endometrial cancer risk. McGrath M et al. 2008 International journal of cancer
18845558 Genetic variants in fibroblast growth factor receptor 2 (FGFR2) contribute to susceptibility of breast cancer in Chinese women. Liang J et al. 2008 Carcinogenesis
18973230 Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations. Gates MA et al. 2009 International journal of cancer
19005751 Low penetrance breast cancer predisposition SNPs are site specific. Mcinerney N et al. 2009 Breast cancer research and treatment
19028704 Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. Rebbeck TR et al. 2009 Carcinogenesis
19088016 Genetic susceptibility loci for breast cancer by estrogen receptor status. Garcia-Closas M et al. 2008 Clinical cancer research
19092773 Breast cancer susceptibility: current knowledge and implications for genetic counselling. Ripperger T et al. 2009 European journal of human genetics
19094228 The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. Tapper W et al. 2008 Breast cancer research
19119171 AXIS inhibition protein 2, orofacial clefts and a family history of cancer. Menezes R et al. 2009 Journal of the American Dental Association (1939)
19219042 Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Zheng W et al. 2009 Nature genetics
19223389 FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Udler MS et al. 2009 Human molecular genetics
19232126 Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. Woolcott CG et al. 2009 Breast cancer research
19304784 Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. Song H et al. 2009 Human molecular genetics
19454617 Genetic variation in the chromosome 17q23 amplicon and breast cancer risk. Kelemen LE et al. 2009 Cancer epidemiology, biomarkers & prevention
19497954 Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer. Zhu X et al. 2009 Molecular endocrinology (Baltimore, Md.)
19519208 Polygenic susceptibility to breast cancer: current state-of-the-art. Ghoussaini M et al. 2009 Future oncology (London, England)
19536173 Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia. Boyarskikh UA et al. 2009 European journal of human genetics
19567422 Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. Milne RL et al. 2009 Journal of the National Cancer Institute
19607694 Low-risk susceptibility alleles in 40 human breast cancer cell lines. Riaz M et al. 2009 BMC cancer
19639606 Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases. Zhong H et al. 2010 Genetic epidemiology
19738052 A risk variant in an miR-125b binding site in BMPR1B is associated with breast cancer pathogenesis. Saetrom P et al. 2009 Cancer research
19789366 Evaluation of 11 breast cancer susceptibility loci in African-American women. Zheng W et al. 2009 Cancer epidemiology, biomarkers & prevention
19861516 Variation in the FGFR2 gene and the effects of postmenopausal hormone therapy on invasive breast cancer. Prentice RL et al. 2009 Cancer epidemiology, biomarkers & prevention
19931039 Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. Yang Q et al. 2009 American journal of human genetics
20054709 Birth weight, breast cancer susceptibility loci, and breast cancer risk. Tamimi RM et al. 2010 Cancer causes & control
20056625 Variation in the FGFR2 gene and the effect of a low-fat dietary pattern on invasive breast cancer. Prentice RL et al. 2010 Cancer epidemiology, biomarkers & prevention
20056641 Multiple genetic variants in telomere pathway genes and breast cancer risk. Shen J et al. 2010 Cancer epidemiology, biomarkers & prevention
20085711 Leveraging genetic variability across populations for the identification of causal variants. Zaitlen N et al. 2010 American journal of human genetics
20126254 Rare variants create synthetic genome-wide associations. Dickson SP et al. 2010 PLoS biology
20146796 Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. Mavaddat N et al. 2010 Breast cancer research
20193855 rs2981582 is associated with FGFR2 expression in normal breast. Sun C et al. 2010 Cancer genetics and cytogenetics
20237344 Performance of common genetic variants in breast-cancer risk models. Wacholder S et al. 2010 The New England journal of medicine
20299982 Evaluating cancer epidemiologic risk factors using multiple primary malignancies. Kuligina E et al. 2010 Epidemiology (Cambridge, Mass.)
20300826 Current evidence on the relationship between three polymorphisms in the FGFR2 gene and breast cancer risk: a meta-analysis. Zhang J et al. 2010 Breast cancer research and treatment
20348248 Genetic and epigenetic mechanisms down-regulate FGF receptor 2 to induce melanoma-associated antigen A in breast cancer. Zhu X et al. 2010 The American journal of pathology
20364400 Quantitative assessment of the effect of FGFR2 gene polymorphism on the risk of breast cancer. Jia C et al. 2010 Breast cancer research and treatment
20453838 Genome-wide association study identifies five new breast cancer susceptibility loci. Turnbull C et al. 2010 Nature genetics
20484103 Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. Zheng W et al. 2010 Journal of the National Cancer Institute
20505153 A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. Ioannidis JP et al. 2010 Journal of the National Cancer Institute
20530438 Unique SNP in CD44 intron 1 and its role in breast cancer development. Zhou J et al. 2010 Anticancer research
20554749 FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women. Barnholtz-Sloan JS et al. 2010 Carcinogenesis
20585100 Genome-wide association studies of cancer. Stadler ZK et al. 2010 Journal of clinical oncology
20605201 Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Travis RC et al. 2010 Lancet (London, England)
20664043 Incidence of breast cancer and its subtypes in relation to individual and multiple low-penetrance genetic susceptibility loci. Reeves GK et al. 2010 JAMA
20677155 [Association of FGFR2 gene polymorphism with estrogen receptor positive breast cancer detected by fluorescent quantitative PCR]. Ren L et al. 2010 Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
20699374 Evaluation of breast cancer susceptibility loci in Chinese women. Long J et al. 2010 Cancer epidemiology, biomarkers & prevention
20718042 Pooled versus individual genotyping in a breast cancer genome-wide association study. Huang Y et al. 2010 Genetic epidemiology
20853316 FGFR2 intronic SNPs and breast cancer risk: associations with tumor characteristics and interactions with exogenous exposures and other known breast cancer risk factors. Marian C et al. 2011 International journal of cancer
20956782 Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. Mealiffe ME et al. 2010 Journal of the National Cancer Institute
20957429 Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. Comen E et al. 2011 Breast cancer research and treatment
20959865 Genome-wide association of breast cancer: composite likelihood with imputed genotypes. Politopoulos I et al. 2011 European journal of human genetics
21037853 Breast cancer in the personal genomics era. Ellsworth RE et al. 2010 Current genomics
21049069 Identification of Novel Susceptibility Genes for Breast Cancer - Genome-Wide Association Studies or Evaluation of Candidate Genes? Meindl A et al. 2009 Breast care (Basel, Switzerland)
21060860 Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. Gaudet MM et al. 2010 PLoS genetics
21102626 Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations. Chen F et al. 2011 European journal of human genetics
21118973 Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. Antoniou AC et al. 2010 Cancer research
21132113 Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare. Loud JT et al. 2010 The journal for nurse practitioners
21194473 Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. Milne RL et al. 2010 Breast cancer research
21203894 Cancer susceptibility variants and the risk of adult glioma in a US case-control study. Egan KM et al. 2011 Journal of neuro-oncology
21382839 Relation of FGFR2 genetic polymorphisms to the association between oral contraceptive use and the risk of breast cancer in Chinese women. Xu WH et al. 2011 American journal of epidemiology
21415360 Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype. Han W et al. 2011 Cancer epidemiology, biomarkers & prevention
21418638 FGFR2 protein expression in breast cancer: nuclear localisation and correlation with patient genotype. Martin AJ et al. 2011 BMC research notes
21445572 Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies. Peng S et al. 2011 Breast cancer research and treatment
21468051 Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. Pashayan N et al. 2011 British journal of cancer
21475998 Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States. Slattery ML et al. 2011 Breast cancer research and treatment
21497291 Evaluation of nanofluidics technology for high-throughput SNP genotyping in a clinical setting. Chan M et al. 2011 The Journal of molecular diagnostics
21514219 Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Zhang B et al. 2011 The Lancet. Oncology
21596841 Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Broeks A et al. 2011 Human molecular genetics
21639959 Annual conference on hereditary cancers 2009 szczecin, poland. 10-11 december 2009. Abstracts. Jakubowska A et al. 2011 Hereditary cancer in clinical practice
21655367 In search of breast cancer culprits: suspecting the suspected and the unsuspected. Dimri GP et al. 2008 Breast cancer
21702935 Genetic variants in the MRPS30 region and postmenopausal breast cancer risk. Huang Y et al. 2011 Genome medicine
21748294 Correlation of breast cancer susceptibility loci with patient characteristics, metastasis-free survival, and mRNA expression of the nearest genes. Riaz M et al. 2012 Breast cancer research and treatment
21767389 Allele-specific regulation of FGFR2 expression is cell type-dependent and may increase breast cancer risk through a paracrine stimulus involving FGF10. Huijts PE et al. 2011 Breast cancer research
21791674 Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. Campa D et al. 2011 Journal of the National Cancer Institute
21795498 Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer. Milne RL et al. 2011 Cancer epidemiology, biomarkers & prevention
21795501 Replication of breast cancer GWAS susceptibility loci in the Women's Health Initiative African American SHARe Study. Hutter CM et al. 2011 Cancer epidemiology, biomarkers & prevention
21822685 Genetic variants of fibroblast growth factor receptor 2 (FGFR2) are associated with breast cancer risk in Chinese women of the Han nationality. Chen F et al. 2012 Immunogenetics
21844186 Common breast cancer susceptibility loci are associated with triple-negative breast cancer. Stevens KN et al. 2011 Cancer research
21852243 Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans. Chen F et al. 2011 Human molecular genetics
21869864 An integrative genomics approach to biomarker discovery in breast cancer. Hicks C et al. 2011 Cancer informatics
21965274 Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study. Healey CS et al. 2011 Carcinogenesis
22028405 Estimating causal effects of genetic risk variants for breast cancer using marker data from bilateral and familial cases. Dudbridge F et al. 2012 Cancer epidemiology, biomarkers & prevention
22045194 Combined effect of low-penetrant SNPs on breast cancer risk. Harlid S et al. 2012 British journal of cancer
22053997 Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. Mulligan AM et al. 2011 Breast cancer research
22087758 Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study. Teraoka SN et al. 2011 Breast cancer research
22269215 Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women. Dai J et al. 2012 Breast cancer research
22303333 Replication of GWAS "Hits" by Race for Breast and Prostate Cancers in European Americans and African Americans. Barnholtz-Sloan JS et al. 2011 Frontiers in genetics
22314178 Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement. Darabi H et al. 2012 Breast cancer research
22332084 Research advances at the Institute for Nutritional Sciences at Shanghai, China. Chen Y et al. 2011 Advances in nutrition (Bethesda, Md.)
22357627 Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. Huo D et al. 2012 Carcinogenesis
22433456 Reproductive aging-associated common genetic variants and the risk of breast cancer. He C et al. 2012 Breast cancer research
22452962 A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. Kim HC et al. 2012 Breast cancer research
22454379 Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. Vachon CM et al. 2012 Cancer epidemiology, biomarkers & prevention
22532573 The role of genetic breast cancer susceptibility variants as prognostic factors. Fasching PA et al. 2012 Human molecular genetics
22726230 Interactive effect of genetic susceptibility with height, body mass index, and hormone replacement therapy on the risk of breast cancer. Harlid S et al. 2012 BMC women's health
22747683 Genetic variants associated with breast size also influence breast cancer risk. Eriksson N et al. 2012 BMC medical genetics
22778704 The association between single-nucleotide polymorphisms of ORAI1 gene and breast cancer in a Taiwanese population. Chang WC et al. 2012 TheScientificWorldJournal
22867275 Genetic predisposition, parity, age at first childbirth and risk for breast cancer. Butt S et al. 2012 BMC research notes
22910930 Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians. Shan J et al. 2012 Breast cancer research and treatment
22926736 Low penetrance alleles as risk modifiers in familial and sporadic breast cancer. Esteban Cardeñosa E et al. 2012 Familial cancer
22965832 Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population. Chan M et al. 2012 Breast cancer research and treatment
22972951 Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status. Hüsing A et al. 2012 Journal of medical genetics
23107584 Identifying breast cancer risk loci by global differential allele-specific expression (DASE) analysis in mammary epithelial transcriptome. Gao C et al. 2012 BMC genomics
23136140 Genetic susceptibility loci for subtypes of breast cancer in an African American population. Palmer JR et al. 2013 Cancer epidemiology, biomarkers & prevention
23143756 Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status. Cen YL et al. 2013 Molecular carcinogenesis
23184080 Assessing interactions between the associations of fibroblast growth factor receptor 2 common genetic variants and hormone receptor status with breast cancer risk. Wang H et al. 2013 Breast cancer research and treatment
23221726 Gene-environment interactions for breast cancer risk among Chinese women: a report from the Shanghai Breast Cancer Genetics Study. Li H et al. 2013 American journal of epidemiology
23225170 Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population. Jara L et al. 2013 Breast cancer research and treatment
23354978 Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. Rinella ES et al. 2013 Human genetics
23435034 Breast cancer susceptibility associated with rs1219648 (fibroblast growth factor receptor 2) and postmenopausal hormone therapy use in a population-based United States study. Andersen SW et al. 2013 Menopause (New York, N.Y.)
23462807 Single-nucleotide polymorphisms associated with outcome in metastatic renal cell carcinoma treated with sunitinib. Beuselinck B et al. 2013 British journal of cancer
23486537 Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations. Barzan D et al. 2013 European journal of human genetics
23535825 Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls. Zheng W et al. 2013 Human molecular genetics
23544014 Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. Nickels S et al. 2013 PLoS genetics
23593120 Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. Long J et al. 2013 PloS one
23635555 The relationship between eight GWAS-identified single-nucleotide polymorphisms and primary breast cancer outcomes. Bayraktar S et al. 2013 The oncologist
23650637 Deconvoluting complex tissues for expression quantitative trait locus-based analyses. Seo JH et al. 2013 Philosophical transactions of the Royal Society of London. Series B, Biological sciences
23717390 Identification of a breast cancer susceptibility locus at 4q31.22 using a genome-wide association study paradigm. Sapkota Y et al. 2013 PloS one
23776363 The genetics of breast cancer: risk factors for disease. Collins A et al. 2011 The application of clinical genetics
23893088 The associations between a polygenic score, reproductive and menstrual risk factors and breast cancer risk. Warren Andersen S et al. 2013 Breast cancer research and treatment
23912956 Associations with growth factor genes (FGF1, FGF2, PDGFB, FGFR2, NRG2, EGF, ERBB2) with breast cancer risk and survival: the Breast Cancer Health Disparities Study. Slattery ML et al. 2013 Breast cancer research and treatment
23949966 Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes. Leslie EJ et al. 2013 American journal of medical genetics. Part A
24025454 Hereditary breast cancer: ever more pieces to the polygenic puzzle. Bogdanova N et al. 2013 Hereditary cancer in clinical practice
24054997 Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women. Murillo-Zamora E et al. 2013 Archives of medical research
24171766 Common low-penetrance risk variants associated with breast cancer in Polish women. Ledwoń JK et al. 2013 BMC cancer
24218030 Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. O'Brien KM et al. 2014 American journal of epidemiology
24266904 Breast cancer prediction using genome wide single nucleotide polymorphism data. Hajiloo M et al. 2013 BMC bioinformatics
24340245 Adiposity, inflammation, genetic variants and risk of post-menopausal breast cancer findings from a prospective-specimen-collection, retrospective-blinded-evaluation (PRoBE) design approach. Yan XS et al. 2013 SpringerPlus
24359602 Common breast cancer risk variants in the post-COGS era: a comprehensive review. Maxwell KN et al. 2013 Breast cancer research
24373701 Breast cancer susceptibility loci in association with age at menarche, age at natural menopause and the reproductive lifespan. Warren Andersen S et al. 2014 Cancer epidemiology
24454457 Case-control study on the fibroblast growth factor receptor 2 gene polymorphisms associated with breast cancer in chinese han women. Liu CL et al. 2013 Journal of breast cancer
24510657 Evaluating 17 breast cancer susceptibility loci in the Nashville breast health study. Han MR et al. 2015 Breast cancer (Tokyo, Japan)
24771903 Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis. Fasching PA et al. 2013 Geburtshilfe und Frauenheilkunde
24792587 Reproductive windows, genetic loci, and breast cancer risk. Warren Andersen S et al. 2014 Annals of epidemiology
24832084 Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia. Setiawan VW et al. 2014 Carcinogenesis
24895409 Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women. Barrdahl M et al. 2014 Human molecular genetics
24941967 Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population. Lee CP et al. 2014 Breast cancer research
25027274 Testing calibration of risk models at extremes of disease risk. Song M et al. 2015 Biostatistics (Oxford, England)
25057183 A robust association test for detecting genetic variants with heterogeneous effects. Yu K et al. 2015 Biostatistics (Oxford, England)
25253900 Breast Cancer Risk - Genes, Environment and Clinics. Fasching PA et al. 2011 Geburtshilfe und Frauenheilkunde
25255808 Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. Joshi AD et al. 2014 American journal of epidemiology
25270516 Association of physical activity and polymorphisms in FGFR2 and DNA methylation related genes with breast cancer risk. Xi J et al. 2014 Cancer epidemiology
25333473 A study on genetic variants of Fibroblast growth factor receptor 2 (FGFR2) and the risk of breast cancer from North India. Siddiqui S et al. 2014 PloS one
25611573 Association of breast cancer risk loci with breast cancer survival. Barrdahl M et al. 2015 International journal of cancer
25677745 Rationale for targeting fibroblast growth factor receptor signaling in breast cancer. André F et al. 2015 Breast cancer research and treatment
26070784 Genetic risk variants associated with in situ breast cancer. Campa D et al. 2015 Breast cancer research
26113264 Functional annotation of HOT regions in the human genome: implications for human disease and cancer. Li H et al. 2015 Scientific reports
26157456 Using parental phenotypes in case-parent studies. Shi M et al. 2015 Frontiers in genetics
26379965 Associations of immunity-related single nucleotide polymorphisms with overall survival among prostate cancer patients. Miles FL et al. 2015 International journal of clinical and experimental medicine
26421298 Heterogeneity of Breast Cancer Associations with Common Genetic Variants in FGFR2 according to the Intrinsic Subtypes in Southern Han Chinese Women. Liang H et al. 2015 BioMed research international
26559640 Automated amplicon design suitable for analysis of DNA variants by melting techniques. Ekstrøm PO et al. 2015 BMC research notes
26728143 Variants of FGFR2 and their associations with breast cancer risk: a HUGE systematic review and meta-analysis. Cui F et al. 2016 Breast cancer research and treatment
26770289 Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes. Fernandes GC et al. 2016 Hereditary cancer in clinical practice
26803517 Relationship between five GWAS-identified single nucleotide polymorphisms and female breast cancer in the Chinese Han population. He Y et al. 2016 Tumour biology
26866629 Using family members to augment genetic case-control studies of a life-threatening disease. Chen L et al. 2016 Statistics in medicine
26884359 Genetic predisposition to ductal carcinoma in situ of the breast. Petridis C et al. 2016 Breast cancer research
26911390 TNRC9 rs12443621 and FGFR2 rs2981582 polymorphisms and breast cancer risk. Chen Y et al. 2016 World journal of surgical oncology
27079684 Genome-wide association studies and epigenome-wide association studies go together in cancer control. Verma M et al. 2016 Future oncology (London, England)
27121612 Text mining for precision medicine: automating disease-mutation relationship extraction from biomedical literature. Singhal A et al. 2016 Journal of the American Medical Informatics Association
27236187 FGFR2 risk SNPs confer breast cancer risk by augmenting oestrogen responsiveness. Campbell TM et al. 2016 Carcinogenesis
27572905 Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women. Mazhar A et al. 2016 Molecular medicine reports
27708667 Admixture Mapping of African-American Women in the AMBER Consortium Identifies New Loci for Breast Cancer and Estrogen-Receptor Subtypes. Ruiz-Narváez EA et al. 2016 Frontiers in genetics
27825120 Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach. Zhu Q et al. 2016 Oncotarget
28098224 Association of Genome-Wide Association Study (GWAS) Identified SNPs and Risk of Breast Cancer in an Indian Population. Nagrani R et al. 2017 Scientific reports
28117391 Functional PTGS2 polymorphism-based models as novel predictive markers in metastatic renal cell carcinoma patients receiving first-line sunitinib. Cebrián A et al. 2017 Scientific reports
28178648 Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. Kuo SH et al. 2017 Oncotarget
28205043 A polygenic risk score for breast cancer risk in a Taiwanese population. Hsieh YC et al. 2017 Breast cancer research and treatment
28521414 Association of FGFR2 rs2981582, SIRT1 rs12778366, STAT3 rs744166 gene polymorphisms with pituitary adenoma. Glebauskiene B et al. 2017 Oncology letters
28757652 Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study. Hein A et al. 2017 Geburtshilfe und Frauenheilkunde
28985766 Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Jara L et al. 2017 Biological research
29104507 Fibroblast Growth Factor Receptor 2 Signaling in Breast Cancer. Lei H et al. 2017 International journal of biological sciences
29372690 Association of single nucleotide polymorphisms in FGF-RAS/MAP signalling cascade with breast cancer susceptibility. Dankova Z et al. 2017 General physiology and biophysics
29382703 Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future. Lilyquist J et al. 2018 Cancer epidemiology, biomarkers & prevention
29433565 Genetic determinants of sporadic breast cancer in Sri Lankan women. Sirisena ND et al. 2018 BMC cancer
29560110 Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese. Chan CHT et al. 2018 Oncotarget
29652634 Emerging applications of genome-editing technology to examine functionality of GWAS-associated variants for complex traits. Smith AJP et al. 2018 Physiological genomics
29709729 Smoking and FGFR2 rs2981582 variant independently modulate male breast cancer survival: A population-based study in Tuscany, Italy. Zanna I et al. 2018 Breast (Edinburgh, Scotland)
29872343 Association of FGFR2 and PI3KCA genetic variants with the risk of breast cancer in a Chinese population. Wang Y et al. 2018 Cancer management and research
30206133 FGFR2 gene polymorphism rs2981582 is associated with non-functioning pituitary adenomas in Chinese Han population: a case-control study. Zhu B et al. 2018 Bioscience reports
30285756 Subtype-specific associations between breast cancer risk polymorphisms and the survival of early-stage breast cancer. Fu F et al. 2018 Journal of translational medicine
30359238 Effects of FGFR gene polymorphisms on response and toxicity of cyclophosphamide-epirubicin-docetaxel-based chemotherapy in breast cancer patients. Chen L et al. 2018 BMC cancer
30399423 SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, LIPC rs10468017, rs493258 and LPL rs12678919 genotypes and haplotype evaluation in patients with age-related macular degeneration. Liutkeviciene R et al. 2019 Gene
30527746 Fibroblast Growth Factor Receptor-2 Polymorphism rs2981582 is Correlated With Progression-free Survival and Overall Survival in Patients With Metastatic Clear-cell Renal Cell Carcinoma Treated With Sunitinib. Vanmechelen M et al. 2019 Clinical genitourinary cancer
30594178 A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci. Hamdi Y et al. 2018 BMC cancer
30781715 Genetic Epidemiology of Breast Cancer in Latin America. Zavala VA et al. 2019 Genes
31002855 Predictive accuracy of the breast cancer genetic risk model based on eight common genetic variants: The BACkSIDE study. Danková Z et al. 2019 Journal of biotechnology
31113874 The association of genetic variants in FGFR2 with osteoporosis susceptibility in Chinese Han population. Yang Y et al. 2019 Bioscience reports
31125336 Evaluation of significant genome-wide association studies risk - SNPs in young breast cancer patients. Rath M et al. 2019 PloS one
31142340 FGFs/FGFRs-dependent signalling in regulation of steroid hormone receptors - implications for therapy of luminal breast cancer. Piasecka D et al. 2019 Journal of experimental & clinical cancer research
31199170 Does CETP rs5882, rs708272, SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, VEGFA rs833068, IL6 rs1800795 polymorphisms play a role in optic neuritis development? Gedvilaite G et al. 2019 Ophthalmic genetics
31448667 Correlation of FGFR2 rs2981582 polymorphisms with susceptibility to breast cancer: a case-control study in a Chinese population. Shu J et al. 2019 The Journal of international medical research
31759353 P21 Ser31Arg and FGFR2 rs2981582 Polymorphisms as Risk Factors for Early Onset of Breast Cancer in Yogyakarta, Indonesia. Purnomosari D et al. 2019 Asian Pacific journal of cancer prevention
31781300 Determination of SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, and RAGE rs1800625 Single Gene Polymorphisms in Patients with Laryngeal Squamous Cell Carcinoma. Uloza V et al. 2019 Disease markers
32269954 Copy number alternations of the 17q23-rs6504950 locus are associated with advanced breast cancers in Taiwanese women. Lin CY et al. 2020 Ci ji yi xue za zhi = Tzu-chi medical journal
32287273 DOT: Gene-set analysis by combining decorrelated association statistics. Vsevolozhskaya OA et al. 2020 PLoS computational biology
32366738 Low-penetrance susceptibility variants and postmenopausal oestrogen receptor positive breast cancer. Özgöz A et al. 2020 Journal of genetics
32487238 MassARRAY analysis of twelve cancer related SNPs in esophageal squamous cell carcinoma in J&K, India. Shah R et al. 2020 BMC cancer
32547144 Genetic Association of SH2B1 Gene Polymorphisms in Jordanian Arab Patients with Type 2 Diabetes Mellitus. Al-Eitan LN et al. 2020 Diabetes, metabolic syndrome and obesity
32706340 Tendencies of FGFR2 rs2981582 polymorphism in patients with oral cancer. Liutkevicius V et al. 2020 Stomatologija
32894086 MassARRAY-based single nucleotide polymorphism analysis in breast cancer of north Indian population. Bakshi D et al. 2020 BMC cancer
33081025 The FGF/FGFR System in Breast Cancer: Oncogenic Features and Therapeutic Perspectives. Santolla MF et al. 2020 Cancers
33112566 The Associations of Common Genetic Susceptibility Variants with Breast Cancer in Jordanian Arabs: A Case-Control Study. Al-Eitan LN et al. 2020 Asian Pacific journal of cancer prevention
33126731 Genomic Diversity in Sporadic Breast Cancer in a Latin American Population. Brignoni L et al. 2020 Genes
33659210 A Review of Cancer Genetics and Genomics Studies in Africa. Rotimi SO et al. 2020 Frontiers in oncology
33740609 Genetic polymorphism of fibroblast growth factor receptor 2 and trinucleotide repeat-containing 9 influence the susceptibility to HCV-induced hepatocellular carcinoma. Al-Khaykanee AM et al. 2021 Clinics and research in hepatology and gastroenterology
33762959 Meta-Analysis of ABCG2 and ABCB1 Polymorphisms With Sunitinib-Induced Toxicity and Efficacy in Renal Cell Carcinoma. Sun F et al. 2021 Frontiers in pharmacology
34359697 A Personal Breast Cancer Risk Stratification Model Using Common Variants and Environmental Risk Factors in Japanese Females. Oze I et al. 2021 Cancers
34514747 Activation of FGFR2 Signaling Suppresses BRCA1 and Drives Triple-Negative Mammary Tumorigenesis That is Sensitive to Immunotherapy. Lei JH et al. 2021 Advanced science (Weinheim, Baden-Wurttemberg, Germany)
34759736 Fibroblast growth factor receptor 2 gene (FGFR2) rs2981582T/C polymorphism and susceptibility to breast cancer in Saudi women. AlRaddadi RIR et al. 2021 Saudi journal of biological sciences
34830836 Biological Significance and Targeting of the FGFR Axis in Cancer. Chioni AM et al. 2021 Cancers
35395775 Development and validation of polygenic risk scores for prediction of breast cancer and breast cancer subtypes in Chinese women. Hou C et al. 2022 BMC cancer
35406617 Germline Variants in Angiogenesis-Related Genes Contribute to Clinical Outcome in Head and Neck Squamous Cell Carcinoma. Butkiewicz D et al. 2022 Cancers
35672017 COL1A1 and FGFR2 Single-Nucleotide Polymorphisms Found in Class II and Class III Skeletal Malocclusions in Javanese Population. Ardani IGAW et al. 2023 European journal of dentistry
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post774+babeb33