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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1048380

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:46676866 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.246492 (65244/264690, TOPMED)
A=0.260022 (59987/230700, ALFA)
A=0.239452 (33349/139272, GnomAD) (+ 19 more)
A=0.25268 (19883/78690, PAGE_STUDY)
A=0.35862 (10134/28258, 14KJPN)
A=0.35901 (6017/16760, 8.3KJPN)
A=0.2517 (1612/6404, 1000G_30x)
A=0.2548 (1276/5008, 1000G)
A=0.2798 (1252/4474, Estonian)
A=0.2553 (984/3854, ALSPAC)
A=0.2422 (898/3708, TWINSUK)
A=0.3491 (1023/2930, KOREAN)
A=0.2505 (474/1892, HapMap)
A=0.3635 (666/1832, Korea1K)
A=0.244 (244/998, GoNL)
A=0.296 (222/750, PRJEB37584)
A=0.232 (139/600, NorthernSweden)
G=0.407 (109/268, SGDP_PRJ)
A=0.333 (72/216, Qatari)
A=0.23 (9/40, GENOME_DK)
G=0.46 (12/26, Siberian)
A=0.0 (0/6, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EFCAB14-AS1 : Intron Variant
EFCAB14 : 3 Prime UTR Variant
Publications
1 citation
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 Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 235736 G=0.740578 A=0.259422 0.549564 0.068407 0.382029 3
European Sub 209780 G=0.737973 A=0.262027 0.544952 0.069006 0.386043 0
African Sub 9106 G=0.8565 A=0.1435 0.732704 0.019767 0.247529 0
African Others Sub 350 G=0.871 A=0.129 0.754286 0.011429 0.234286 0
African American Sub 8756 G=0.8559 A=0.1441 0.731841 0.020101 0.248058 0
Asian Sub 3786 G=0.6854 A=0.3146 0.473851 0.103011 0.423138 0
East Asian Sub 3056 G=0.6610 A=0.3390 0.439136 0.117147 0.443717 0
Other Asian Sub 730 G=0.788 A=0.212 0.619178 0.043836 0.336986 0
Latin American 1 Sub 982 G=0.739 A=0.261 0.539715 0.0611 0.399185 0
Latin American 2 Sub 2580 G=0.6562 A=0.3438 0.436434 0.124031 0.439535 1
South Asian Sub 366 G=0.776 A=0.224 0.601093 0.04918 0.349727 0
Other Sub 9136 G=0.7303 A=0.2697 0.535245 0.07465 0.390105 0


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
TopMed Global Study-wide 264690 G=0.753508 A=0.246492
Allele Frequency Aggregator Total Global 230700 G=0.739978 A=0.260022
Allele Frequency Aggregator European Sub 206686 G=0.737868 A=0.262132
Allele Frequency Aggregator Other Sub 8336 G=0.7295 A=0.2705
Allele Frequency Aggregator African Sub 7964 G=0.8572 A=0.1428
Allele Frequency Aggregator Asian Sub 3786 G=0.6854 A=0.3146
Allele Frequency Aggregator Latin American 2 Sub 2580 G=0.6562 A=0.3438
Allele Frequency Aggregator Latin American 1 Sub 982 G=0.739 A=0.261
Allele Frequency Aggregator South Asian Sub 366 G=0.776 A=0.224
gnomAD - Genomes Global Study-wide 139272 G=0.760548 A=0.239452
gnomAD - Genomes European Sub 75472 G=0.74021 A=0.25979
gnomAD - Genomes African Sub 41660 G=0.84990 A=0.15010
gnomAD - Genomes American Sub 13570 G=0.65372 A=0.34628
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.6513 A=0.3487
gnomAD - Genomes East Asian Sub 3108 G=0.6560 A=0.3440
gnomAD - Genomes Other Sub 2144 G=0.7369 A=0.2631
The PAGE Study Global Study-wide 78690 G=0.74732 A=0.25268
The PAGE Study AfricanAmerican Sub 32514 G=0.84840 A=0.15160
The PAGE Study Mexican Sub 10810 G=0.65856 A=0.34144
The PAGE Study Asian Sub 8318 G=0.6516 A=0.3484
The PAGE Study PuertoRican Sub 7916 G=0.6839 A=0.3161
The PAGE Study NativeHawaiian Sub 4534 G=0.6204 A=0.3796
The PAGE Study Cuban Sub 4226 G=0.7253 A=0.2747
The PAGE Study Dominican Sub 3828 G=0.7709 A=0.2291
The PAGE Study CentralAmerican Sub 2450 G=0.6620 A=0.3380
The PAGE Study SouthAmerican Sub 1982 G=0.6529 A=0.3471
The PAGE Study NativeAmerican Sub 1258 G=0.6924 A=0.3076
The PAGE Study SouthAsian Sub 854 G=0.765 A=0.235
14KJPN JAPANESE Study-wide 28258 G=0.64138 A=0.35862
8.3KJPN JAPANESE Study-wide 16760 G=0.64099 A=0.35901
1000Genomes_30x Global Study-wide 6404 G=0.7483 A=0.2517
1000Genomes_30x African Sub 1786 G=0.8651 A=0.1349
1000Genomes_30x Europe Sub 1266 G=0.7046 A=0.2954
1000Genomes_30x South Asian Sub 1202 G=0.7829 A=0.2171
1000Genomes_30x East Asian Sub 1170 G=0.6718 A=0.3282
1000Genomes_30x American Sub 980 G=0.641 A=0.359
1000Genomes Global Study-wide 5008 G=0.7452 A=0.2548
1000Genomes African Sub 1322 G=0.8638 A=0.1362
1000Genomes East Asian Sub 1008 G=0.6657 A=0.3343
1000Genomes Europe Sub 1006 G=0.7028 A=0.2972
1000Genomes South Asian Sub 978 G=0.781 A=0.219
1000Genomes American Sub 694 G=0.646 A=0.354
Genetic variation in the Estonian population Estonian Study-wide 4474 G=0.7202 A=0.2798
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7447 A=0.2553
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7578 A=0.2422
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6509 A=0.3491
HapMap Global Study-wide 1892 G=0.7495 A=0.2505
HapMap American Sub 770 G=0.742 A=0.258
HapMap African Sub 692 G=0.789 A=0.211
HapMap Asian Sub 254 G=0.681 A=0.319
HapMap Europe Sub 176 G=0.727 A=0.273
Korean Genome Project KOREAN Study-wide 1832 G=0.6365 A=0.3635
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.756 A=0.244
CNV burdens in cranial meningiomas Global Study-wide 750 G=0.704 A=0.296
CNV burdens in cranial meningiomas CRM Sub 750 G=0.704 A=0.296
Northern Sweden ACPOP Study-wide 600 G=0.768 A=0.232
SGDP_PRJ Global Study-wide 268 G=0.407 A=0.593
Qatari Global Study-wide 216 G=0.667 A=0.333
The Danish reference pan genome Danish Study-wide 40 G=0.78 A=0.23
Siberian Global Study-wide 26 G=0.46 A=0.54
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 6 G=1.0 A=0.0
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 1 NC_000001.11:g.46676866G>A
GRCh37.p13 chr 1 NC_000001.10:g.47142538G>A
Gene: EFCAB14, EF-hand calcium binding domain 14 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
EFCAB14 transcript NM_014774.3:c.*1595= N/A 3 Prime UTR Variant
Gene: EFCAB14-AS1, EFCAB14 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EFCAB14-AS1 transcript variant 1 NR_038827.1:n. N/A Intron Variant
EFCAB14-AS1 transcript variant 2 NR_038828.1:n. 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.

Not Reported in ClinVar
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 G= A
GRCh38.p14 chr 1 NC_000001.11:g.46676866= NC_000001.11:g.46676866G>A
GRCh37.p13 chr 1 NC_000001.10:g.47142538= NC_000001.10:g.47142538G>A
EFCAB14 transcript NM_014774.3:c.*1595= NM_014774.3:c.*1595C>T
EFCAB14 transcript NM_014774.2:c.*1595= NM_014774.2:c.*1595C>T
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#.

106 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1521266 Oct 05, 2000 (86)
2 LEE ss4393836 May 29, 2002 (106)
3 YUSUKE ss4952270 Aug 28, 2002 (108)
4 PERLEGEN ss23843072 Sep 20, 2004 (123)
5 AFFY ss65920345 Dec 02, 2006 (127)
6 SI_EXO ss71643299 May 18, 2007 (127)
7 ILLUMINA ss74990846 Dec 06, 2007 (129)
8 BCMHGSC_JDW ss87405121 Mar 23, 2008 (129)
9 KRIBB_YJKIM ss119380154 Dec 01, 2009 (131)
10 ENSEMBL ss137917751 Dec 01, 2009 (131)
11 ILLUMINA ss159898351 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss164217867 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss166464001 Jul 04, 2010 (132)
14 ILLUMINA ss170144776 Jul 04, 2010 (132)
15 1000GENOMES ss218358834 Jul 14, 2010 (132)
16 1000GENOMES ss230516285 Jul 14, 2010 (132)
17 1000GENOMES ss238214455 Jul 15, 2010 (132)
18 GMI ss275808290 May 04, 2012 (137)
19 ILLUMINA ss479279705 May 04, 2012 (137)
20 ILLUMINA ss479282699 May 04, 2012 (137)
21 ILLUMINA ss479659241 Sep 08, 2015 (146)
22 ILLUMINA ss484440396 May 04, 2012 (137)
23 ILLUMINA ss536609488 Sep 08, 2015 (146)
24 TISHKOFF ss554062897 Apr 25, 2013 (138)
25 ILLUMINA ss778732722 Sep 08, 2015 (146)
26 ILLUMINA ss782666684 Aug 21, 2014 (142)
27 ILLUMINA ss783635457 Sep 08, 2015 (146)
28 ILLUMINA ss831917288 Apr 01, 2015 (144)
29 ILLUMINA ss834192232 Sep 08, 2015 (146)
30 EVA-GONL ss975106079 Aug 21, 2014 (142)
31 1000GENOMES ss1290672493 Aug 21, 2014 (142)
32 DDI ss1425792957 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1574029063 Apr 01, 2015 (144)
34 EVA_DECODE ss1584470299 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1600060277 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1643054310 Apr 01, 2015 (144)
37 EVA_SVP ss1712329087 Apr 01, 2015 (144)
38 ILLUMINA ss1751922193 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1918314418 Feb 12, 2016 (147)
40 ILLUMINA ss1945993956 Feb 12, 2016 (147)
41 ILLUMINA ss1958268920 Feb 12, 2016 (147)
42 JJLAB ss2019672783 Sep 14, 2016 (149)
43 USC_VALOUEV ss2147685475 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2162048535 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2624350582 Nov 08, 2017 (151)
46 ILLUMINA ss2632509204 Nov 08, 2017 (151)
47 GRF ss2697596132 Nov 08, 2017 (151)
48 GNOMAD ss2754516486 Nov 08, 2017 (151)
49 SWEGEN ss2986728188 Nov 08, 2017 (151)
50 ILLUMINA ss3021083410 Nov 08, 2017 (151)
51 CSHL ss3343432301 Nov 08, 2017 (151)
52 ILLUMINA ss3625534738 Oct 11, 2018 (152)
53 ILLUMINA ss3626085985 Oct 11, 2018 (152)
54 ILLUMINA ss3630545747 Oct 11, 2018 (152)
55 ILLUMINA ss3632889641 Oct 11, 2018 (152)
56 ILLUMINA ss3633584129 Oct 11, 2018 (152)
57 ILLUMINA ss3634321927 Oct 11, 2018 (152)
58 ILLUMINA ss3635278044 Oct 11, 2018 (152)
59 ILLUMINA ss3635997224 Oct 11, 2018 (152)
60 ILLUMINA ss3637028453 Oct 11, 2018 (152)
61 ILLUMINA ss3637753372 Oct 11, 2018 (152)
62 ILLUMINA ss3640029288 Oct 11, 2018 (152)
63 ILLUMINA ss3642765820 Oct 11, 2018 (152)
64 ILLUMINA ss3644489863 Oct 11, 2018 (152)
65 BIOINF_KMB_FNS_UNIBA ss3645040184 Oct 11, 2018 (152)
66 OMUKHERJEE_ADBS ss3646230212 Oct 11, 2018 (152)
67 ILLUMINA ss3651409563 Oct 11, 2018 (152)
68 EGCUT_WGS ss3654793196 Jul 12, 2019 (153)
69 EVA_DECODE ss3686666477 Jul 12, 2019 (153)
70 ILLUMINA ss3725020781 Jul 12, 2019 (153)
71 ACPOP ss3727001878 Jul 12, 2019 (153)
72 ILLUMINA ss3744045561 Jul 12, 2019 (153)
73 ILLUMINA ss3744622859 Jul 12, 2019 (153)
74 EVA ss3746136380 Jul 12, 2019 (153)
75 PAGE_CC ss3770805736 Jul 12, 2019 (153)
76 ILLUMINA ss3772124306 Jul 12, 2019 (153)
77 PACBIO ss3783395931 Jul 12, 2019 (153)
78 PACBIO ss3789056897 Jul 12, 2019 (153)
79 PACBIO ss3793929551 Jul 12, 2019 (153)
80 KHV_HUMAN_GENOMES ss3799148098 Jul 12, 2019 (153)
81 EVA ss3826147479 Apr 25, 2020 (154)
82 SGDP_PRJ ss3848736372 Apr 25, 2020 (154)
83 KRGDB ss3893724289 Apr 25, 2020 (154)
84 KOGIC ss3944397508 Apr 25, 2020 (154)
85 FSA-LAB ss3983930496 Apr 25, 2021 (155)
86 EVA ss3984456253 Apr 25, 2021 (155)
87 EVA ss3984793091 Apr 25, 2021 (155)
88 EVA ss3986010618 Apr 25, 2021 (155)
89 EVA ss4016907293 Apr 25, 2021 (155)
90 TOPMED ss4447749471 Apr 25, 2021 (155)
91 TOMMO_GENOMICS ss5143694794 Apr 25, 2021 (155)
92 1000G_HIGH_COVERAGE ss5242079378 Oct 17, 2022 (156)
93 EVA ss5314611815 Oct 17, 2022 (156)
94 EVA ss5318373505 Oct 17, 2022 (156)
95 HUGCELL_USP ss5443163698 Oct 17, 2022 (156)
96 EVA ss5505833093 Oct 17, 2022 (156)
97 1000G_HIGH_COVERAGE ss5514256085 Oct 17, 2022 (156)
98 SANFORD_IMAGENETICS ss5625422397 Oct 17, 2022 (156)
99 TOMMO_GENOMICS ss5668389347 Oct 17, 2022 (156)
100 EVA ss5799482490 Oct 17, 2022 (156)
101 YY_MCH ss5800549123 Oct 17, 2022 (156)
102 EVA ss5831886888 Oct 17, 2022 (156)
103 EVA ss5847537045 Oct 17, 2022 (156)
104 EVA ss5848884832 Oct 17, 2022 (156)
105 EVA ss5908039638 Oct 17, 2022 (156)
106 EVA ss5937249491 Oct 17, 2022 (156)
107 1000Genomes NC_000001.10 - 47142538 Oct 11, 2018 (152)
108 1000Genomes_30x NC_000001.11 - 46676866 Oct 17, 2022 (156)
109 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 47142538 Oct 11, 2018 (152)
110 Genetic variation in the Estonian population NC_000001.10 - 47142538 Oct 11, 2018 (152)
111 The Danish reference pan genome NC_000001.10 - 47142538 Apr 25, 2020 (154)
112 gnomAD - Genomes NC_000001.11 - 46676866 Apr 25, 2021 (155)
113 Genome of the Netherlands Release 5 NC_000001.10 - 47142538 Apr 25, 2020 (154)
114 HapMap NC_000001.11 - 46676866 Apr 25, 2020 (154)
115 KOREAN population from KRGDB NC_000001.10 - 47142538 Apr 25, 2020 (154)
116 Korean Genome Project NC_000001.11 - 46676866 Apr 25, 2020 (154)
117 Northern Sweden NC_000001.10 - 47142538 Jul 12, 2019 (153)
118 The PAGE Study NC_000001.11 - 46676866 Jul 12, 2019 (153)
119 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 47142538 Apr 25, 2021 (155)
120 CNV burdens in cranial meningiomas NC_000001.10 - 47142538 Apr 25, 2021 (155)
121 Qatari NC_000001.10 - 47142538 Apr 25, 2020 (154)
122 SGDP_PRJ NC_000001.10 - 47142538 Apr 25, 2020 (154)
123 Siberian NC_000001.10 - 47142538 Apr 25, 2020 (154)
124 8.3KJPN NC_000001.10 - 47142538 Apr 25, 2021 (155)
125 14KJPN NC_000001.11 - 46676866 Oct 17, 2022 (156)
126 TopMed NC_000001.11 - 46676866 Apr 25, 2021 (155)
127 UK 10K study - Twins NC_000001.10 - 47142538 Oct 11, 2018 (152)
128 ALFA NC_000001.11 - 46676866 Apr 25, 2021 (155)
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)
rs3170828 Jul 03, 2002 (106)
rs3766228 Oct 09, 2002 (108)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87405121, ss164217867, ss166464001, ss275808290, ss479279705, ss1584470299, ss1712329087, ss3642765820 NC_000001.9:46915124:G:A NC_000001.11:46676865:G:A (self)
1383196, 752043, 531444, 1482678, 319292, 901683, 286743, 19018, 5558, 356348, 753352, 201829, 1664101, 752043, ss218358834, ss230516285, ss238214455, ss479282699, ss479659241, ss484440396, ss536609488, ss554062897, ss778732722, ss782666684, ss783635457, ss831917288, ss834192232, ss975106079, ss1290672493, ss1425792957, ss1574029063, ss1600060277, ss1643054310, ss1751922193, ss1918314418, ss1945993956, ss1958268920, ss2019672783, ss2147685475, ss2624350582, ss2632509204, ss2697596132, ss2754516486, ss2986728188, ss3021083410, ss3343432301, ss3625534738, ss3626085985, ss3630545747, ss3632889641, ss3633584129, ss3634321927, ss3635278044, ss3635997224, ss3637028453, ss3637753372, ss3640029288, ss3644489863, ss3646230212, ss3651409563, ss3654793196, ss3727001878, ss3744045561, ss3744622859, ss3746136380, ss3772124306, ss3783395931, ss3789056897, ss3793929551, ss3826147479, ss3848736372, ss3893724289, ss3983930496, ss3984456253, ss3984793091, ss3986010618, ss4016907293, ss5143694794, ss5314611815, ss5318373505, ss5505833093, ss5625422397, ss5799482490, ss5831886888, ss5847537045, ss5937249491 NC_000001.10:47142537:G:A NC_000001.11:46676865:G:A (self)
1782020, 9771497, 58362, 775509, 27205, 2226451, 11355806, 3659677947, ss2162048535, ss3645040184, ss3686666477, ss3725020781, ss3770805736, ss3799148098, ss3944397508, ss4447749471, ss5242079378, ss5443163698, ss5514256085, ss5668389347, ss5800549123, ss5848884832, ss5908039638 NC_000001.11:46676865:G:A NC_000001.11:46676865:G:A (self)
ss1521266, ss4393836, ss4952270, ss23843072, ss65920345, ss71643299, ss74990846, ss119380154, ss137917751, ss159898351, ss170144776 NT_032977.9:17114455:G:A NC_000001.11:46676865:G:A (self)
Help

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

1 citation for rs1048380
PMID Title Author Year Journal
21696813 Identification of ATPAF1 as a novel candidate gene for asthma in children. Schauberger EM et al. 2011 The Journal of allergy and clinical immunology
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.post820+afb47a3d