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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.

rs3752953

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:113699628 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.212857 (56341/264690, TOPMED)
T=0.213632 (29900/139960, GnomAD)
T=0.17220 (13445/78078, PAGE_STUDY) (+ 20 more)
T=0.06837 (1932/28256, 14KJPN)
T=0.23257 (5570/23950, ALFA)
T=0.07124 (1194/16760, 8.3KJPN)
T=0.2027 (1298/6404, 1000G_30x)
T=0.2011 (1007/5008, 1000G)
T=0.2058 (922/4480, Estonian)
T=0.2626 (1012/3854, ALSPAC)
T=0.2581 (957/3708, TWINSUK)
T=0.0856 (250/2922, KOREAN)
T=0.1675 (317/1892, HapMap)
T=0.0617 (113/1832, Korea1K)
T=0.244 (244/998, GoNL)
T=0.201 (126/626, Chileans)
T=0.230 (138/600, NorthernSweden)
T=0.300 (160/534, MGP)
T=0.278 (60/216, Qatari)
T=0.182 (39/214, Vietnamese)
C=0.399 (83/208, SGDP_PRJ)
T=0.30 (12/40, GENOME_DK)
C=0.47 (14/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHTF1 : Intron Variant
Publications
0 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 23950 C=0.76743 T=0.23257
European Sub 15666 C=0.74844 T=0.25156
African Sub 3616 C=0.8659 T=0.1341
African Others Sub 126 C=0.881 T=0.119
African American Sub 3490 C=0.8653 T=0.1347
Asian Sub 160 C=0.875 T=0.125
East Asian Sub 102 C=0.902 T=0.098
Other Asian Sub 58 C=0.83 T=0.17
Latin American 1 Sub 292 C=0.774 T=0.226
Latin American 2 Sub 2762 C=0.7545 T=0.2455
South Asian Sub 110 C=0.609 T=0.391
Other Sub 1344 C=0.7493 T=0.2507


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 C=0.787143 T=0.212857
gnomAD - Genomes Global Study-wide 139960 C=0.786368 T=0.213632
gnomAD - Genomes European Sub 75810 C=0.74408 T=0.25592
gnomAD - Genomes African Sub 41934 C=0.86171 T=0.13829
gnomAD - Genomes American Sub 13626 C=0.77785 T=0.22215
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7378 T=0.2622
gnomAD - Genomes East Asian Sub 3122 C=0.9045 T=0.0955
gnomAD - Genomes Other Sub 2146 C=0.7651 T=0.2349
The PAGE Study Global Study-wide 78078 C=0.82780 T=0.17220
The PAGE Study AfricanAmerican Sub 32242 C=0.85947 T=0.14053
The PAGE Study Mexican Sub 10716 C=0.76484 T=0.23516
The PAGE Study Asian Sub 8264 C=0.9176 T=0.0824
The PAGE Study PuertoRican Sub 7860 C=0.7953 T=0.2047
The PAGE Study NativeHawaiian Sub 4504 C=0.8661 T=0.1339
The PAGE Study Cuban Sub 4192 C=0.7273 T=0.2727
The PAGE Study Dominican Sub 3802 C=0.7864 T=0.2136
The PAGE Study CentralAmerican Sub 2436 C=0.7890 T=0.2110
The PAGE Study SouthAmerican Sub 1970 C=0.7883 T=0.2117
The PAGE Study NativeAmerican Sub 1254 C=0.7464 T=0.2536
The PAGE Study SouthAsian Sub 838 C=0.646 T=0.354
14KJPN JAPANESE Study-wide 28256 C=0.93163 T=0.06837
Allele Frequency Aggregator Total Global 23950 C=0.76743 T=0.23257
Allele Frequency Aggregator European Sub 15666 C=0.74844 T=0.25156
Allele Frequency Aggregator African Sub 3616 C=0.8659 T=0.1341
Allele Frequency Aggregator Latin American 2 Sub 2762 C=0.7545 T=0.2455
Allele Frequency Aggregator Other Sub 1344 C=0.7493 T=0.2507
Allele Frequency Aggregator Latin American 1 Sub 292 C=0.774 T=0.226
Allele Frequency Aggregator Asian Sub 160 C=0.875 T=0.125
Allele Frequency Aggregator South Asian Sub 110 C=0.609 T=0.391
8.3KJPN JAPANESE Study-wide 16760 C=0.92876 T=0.07124
1000Genomes_30x Global Study-wide 6404 C=0.7973 T=0.2027
1000Genomes_30x African Sub 1786 C=0.8919 T=0.1081
1000Genomes_30x Europe Sub 1266 C=0.6967 T=0.3033
1000Genomes_30x South Asian Sub 1202 C=0.6348 T=0.3652
1000Genomes_30x East Asian Sub 1170 C=0.9179 T=0.0821
1000Genomes_30x American Sub 980 C=0.810 T=0.190
1000Genomes Global Study-wide 5008 C=0.7989 T=0.2011
1000Genomes African Sub 1322 C=0.8933 T=0.1067
1000Genomes East Asian Sub 1008 C=0.9206 T=0.0794
1000Genomes Europe Sub 1006 C=0.6998 T=0.3002
1000Genomes South Asian Sub 978 C=0.635 T=0.365
1000Genomes American Sub 694 C=0.817 T=0.183
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7942 T=0.2058
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7374 T=0.2626
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7419 T=0.2581
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9144 T=0.0856
HapMap Global Study-wide 1892 C=0.8325 T=0.1675
HapMap American Sub 770 C=0.770 T=0.230
HapMap African Sub 692 C=0.897 T=0.103
HapMap Asian Sub 254 C=0.933 T=0.067
HapMap Europe Sub 176 C=0.705 T=0.295
Korean Genome Project KOREAN Study-wide 1832 C=0.9383 T=0.0617
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.756 T=0.244
Chileans Chilean Study-wide 626 C=0.799 T=0.201
Northern Sweden ACPOP Study-wide 600 C=0.770 T=0.230
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.700 T=0.300
Qatari Global Study-wide 216 C=0.722 T=0.278
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.818 T=0.182
SGDP_PRJ Global Study-wide 208 C=0.399 T=0.601
The Danish reference pan genome Danish Study-wide 40 C=0.70 T=0.30
Siberian Global Study-wide 30 C=0.47 T=0.53
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.113699628C>T
GRCh37.p13 chr 1 NC_000001.10:g.114242250C>T
RPS2P14 pseudogene NG_011213.1:g.79G>A
Gene: PHTF1, putative homeodomain transcription factor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PHTF1 transcript variant 2 NM_001323041.2:c.2142+76G…

NM_001323041.2:c.2142+76G>A

N/A Intron Variant
PHTF1 transcript variant 3 NM_001323042.2:c.2142+76G…

NM_001323042.2:c.2142+76G>A

N/A Intron Variant
PHTF1 transcript variant 4 NM_001323043.2:c.2142+76G…

NM_001323043.2:c.2142+76G>A

N/A Intron Variant
PHTF1 transcript variant 5 NM_001323044.2:c.2016+76G…

NM_001323044.2:c.2016+76G>A

N/A Intron Variant
PHTF1 transcript variant 6 NM_001323045.2:c.2016+76G…

NM_001323045.2:c.2016+76G>A

N/A Intron Variant
PHTF1 transcript variant 7 NM_001323046.2:c.1284+76G…

NM_001323046.2:c.1284+76G>A

N/A Intron Variant
PHTF1 transcript variant 1 NM_006608.3:c.2142+76G>A N/A Intron Variant
PHTF1 transcript variant 8 NM_001323047.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 9 NM_001323048.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 10 NM_001323049.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 11 NM_001323050.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 12 NM_001323051.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 13 NM_001323052.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 14 NM_001323053.2:c. N/A Genic Downstream Transcript Variant
PHTF1 transcript variant 15 NR_136564.2:n. N/A Intron Variant
PHTF1 transcript variant 16 NR_136565.2:n. N/A Intron Variant
PHTF1 transcript variant 17 NR_136566.2:n. N/A Intron Variant
PHTF1 transcript variant 18 NR_136567.2:n. N/A Intron Variant
PHTF1 transcript variant 19 NR_136568.2:n. N/A Genic Downstream Transcript 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 C= T
GRCh38.p14 chr 1 NC_000001.11:g.113699628= NC_000001.11:g.113699628C>T
GRCh37.p13 chr 1 NC_000001.10:g.114242250= NC_000001.10:g.114242250C>T
RPS2P14 pseudogene NG_011213.1:g.79= NG_011213.1:g.79G>A
PHTF1 transcript variant 2 NM_001323041.2:c.2142+76= NM_001323041.2:c.2142+76G>A
PHTF1 transcript variant 3 NM_001323042.2:c.2142+76= NM_001323042.2:c.2142+76G>A
PHTF1 transcript variant 4 NM_001323043.2:c.2142+76= NM_001323043.2:c.2142+76G>A
PHTF1 transcript variant 5 NM_001323044.2:c.2016+76= NM_001323044.2:c.2016+76G>A
PHTF1 transcript variant 6 NM_001323045.2:c.2016+76= NM_001323045.2:c.2016+76G>A
PHTF1 transcript variant 7 NM_001323046.2:c.1284+76= NM_001323046.2:c.1284+76G>A
PHTF1 transcript variant 1 NM_006608.2:c.2142+76= NM_006608.2:c.2142+76G>A
PHTF1 transcript variant 1 NM_006608.3:c.2142+76= NM_006608.3:c.2142+76G>A
PHTF1 transcript variant X1 XM_005270383.1:c.2142+76= XM_005270383.1:c.2142+76G>A
PHTF1 transcript variant X2 XM_005270384.1:c.2142+76= XM_005270384.1:c.2142+76G>A
PHTF1 transcript variant X3 XM_005270385.1:c.2055+76= XM_005270385.1:c.2055+76G>A
PHTF1 transcript variant X4 XM_005270386.1:c.2007+76= XM_005270386.1:c.2007+76G>A
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#.

84 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4938982 Aug 28, 2002 (107)
2 WI_SSAHASNP ss11409774 Jul 11, 2003 (116)
3 SI_EXO ss52077729 Oct 16, 2006 (127)
4 AFFY ss76499937 Dec 07, 2007 (129)
5 BCMHGSC_JDW ss87727051 Mar 23, 2008 (129)
6 HUMANGENOME_JCVI ss99242254 Feb 06, 2009 (130)
7 KRIBB_YJKIM ss104887430 Feb 06, 2009 (130)
8 BGI ss106596123 Feb 06, 2009 (130)
9 1000GENOMES ss108537282 Jan 23, 2009 (130)
10 ENSEMBL ss138063387 Dec 01, 2009 (131)
11 ENSEMBL ss139732066 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss165058774 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss167018895 Jul 04, 2010 (132)
14 BUSHMAN ss198954630 Jul 04, 2010 (132)
15 1000GENOMES ss218606181 Jul 14, 2010 (132)
16 1000GENOMES ss230698569 Jul 14, 2010 (132)
17 1000GENOMES ss238354860 Jul 15, 2010 (132)
18 GMI ss275984614 May 04, 2012 (137)
19 PJP ss290602248 May 09, 2011 (134)
20 TISHKOFF ss554594612 Apr 25, 2013 (138)
21 SSMP ss648323882 Apr 25, 2013 (138)
22 EVA-GONL ss975587764 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1068205758 Aug 21, 2014 (142)
24 1000GENOMES ss1292499176 Aug 21, 2014 (142)
25 DDI ss1425942434 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1574334121 Apr 01, 2015 (144)
27 EVA_DECODE ss1584968599 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1601025751 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1644019784 Apr 01, 2015 (144)
30 EVA_MGP ss1710916702 Apr 01, 2015 (144)
31 EVA_SVP ss1712364420 Apr 01, 2015 (144)
32 HAMMER_LAB ss1794958024 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1918788036 Feb 12, 2016 (147)
34 ILLUMINA ss1958304608 Feb 12, 2016 (147)
35 GENOMED ss1966845398 Jul 19, 2016 (147)
36 JJLAB ss2019918446 Sep 14, 2016 (149)
37 ILLUMINA ss2094847169 Dec 20, 2016 (150)
38 ILLUMINA ss2094972499 Dec 20, 2016 (150)
39 USC_VALOUEV ss2147937211 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2165851047 Dec 20, 2016 (150)
41 GRF ss2697867533 Nov 08, 2017 (151)
42 GNOMAD ss2759751364 Nov 08, 2017 (151)
43 SWEGEN ss2987466162 Nov 08, 2017 (151)
44 ILLUMINA ss3021122657 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3023723760 Nov 08, 2017 (151)
46 CSHL ss3343642924 Nov 08, 2017 (151)
47 OMUKHERJEE_ADBS ss3646235064 Oct 11, 2018 (152)
48 URBANLAB ss3646756437 Oct 11, 2018 (152)
49 ILLUMINA ss3651455239 Oct 11, 2018 (152)
50 ILLUMINA ss3651455240 Oct 11, 2018 (152)
51 EGCUT_WGS ss3655555026 Jul 12, 2019 (153)
52 EVA_DECODE ss3687563967 Jul 12, 2019 (153)
53 ACPOP ss3727403185 Jul 12, 2019 (153)
54 EVA ss3746692728 Jul 12, 2019 (153)
55 PAGE_CC ss3770834159 Jul 12, 2019 (153)
56 KHV_HUMAN_GENOMES ss3799695561 Jul 12, 2019 (153)
57 EVA ss3825572235 Apr 25, 2020 (154)
58 EVA ss3826378802 Apr 25, 2020 (154)
59 EVA ss3836581096 Apr 25, 2020 (154)
60 EVA ss3841989540 Apr 25, 2020 (154)
61 SGDP_PRJ ss3849684674 Apr 25, 2020 (154)
62 KRGDB ss3894783099 Apr 25, 2020 (154)
63 KOGIC ss3945281682 Apr 25, 2020 (154)
64 FSA-LAB ss3983941166 Apr 25, 2021 (155)
65 FSA-LAB ss3983941167 Apr 25, 2021 (155)
66 EVA ss3986131985 Apr 25, 2021 (155)
67 TOPMED ss4464194396 Apr 25, 2021 (155)
68 TOMMO_GENOMICS ss5145757266 Apr 25, 2021 (155)
69 EVA ss5237163217 Apr 25, 2021 (155)
70 1000G_HIGH_COVERAGE ss5243667480 Oct 12, 2022 (156)
71 EVA ss5321290224 Oct 12, 2022 (156)
72 HUGCELL_USP ss5444585031 Oct 12, 2022 (156)
73 1000G_HIGH_COVERAGE ss5516690485 Oct 12, 2022 (156)
74 EVA ss5623915718 Oct 12, 2022 (156)
75 SANFORD_IMAGENETICS ss5626331508 Oct 12, 2022 (156)
76 TOMMO_GENOMICS ss5671048662 Oct 12, 2022 (156)
77 EVA ss5800084110 Oct 12, 2022 (156)
78 YY_MCH ss5800946286 Oct 12, 2022 (156)
79 EVA ss5832506584 Oct 12, 2022 (156)
80 EVA ss5848268414 Oct 12, 2022 (156)
81 EVA ss5849074701 Oct 12, 2022 (156)
82 EVA ss5909867585 Oct 12, 2022 (156)
83 EVA ss5938199076 Oct 12, 2022 (156)
84 EVA ss5981195957 Oct 12, 2022 (156)
85 1000Genomes NC_000001.10 - 114242250 Oct 11, 2018 (152)
86 1000Genomes_30x NC_000001.11 - 113699628 Oct 12, 2022 (156)
87 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 114242250 Oct 11, 2018 (152)
88 Chileans NC_000001.10 - 114242250 Apr 25, 2020 (154)
89 Genetic variation in the Estonian population NC_000001.10 - 114242250 Oct 11, 2018 (152)
90 The Danish reference pan genome NC_000001.10 - 114242250 Apr 25, 2020 (154)
91 gnomAD - Genomes NC_000001.11 - 113699628 Apr 25, 2021 (155)
92 Genome of the Netherlands Release 5 NC_000001.10 - 114242250 Apr 25, 2020 (154)
93 HapMap NC_000001.11 - 113699628 Apr 25, 2020 (154)
94 KOREAN population from KRGDB NC_000001.10 - 114242250 Apr 25, 2020 (154)
95 Korean Genome Project NC_000001.11 - 113699628 Apr 25, 2020 (154)
96 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 114242250 Apr 25, 2020 (154)
97 Northern Sweden NC_000001.10 - 114242250 Jul 12, 2019 (153)
98 The PAGE Study NC_000001.11 - 113699628 Jul 12, 2019 (153)
99 Qatari NC_000001.10 - 114242250 Apr 25, 2020 (154)
100 SGDP_PRJ NC_000001.10 - 114242250 Apr 25, 2020 (154)
101 Siberian NC_000001.10 - 114242250 Apr 25, 2020 (154)
102 8.3KJPN NC_000001.10 - 114242250 Apr 25, 2021 (155)
103 14KJPN NC_000001.11 - 113699628 Oct 12, 2022 (156)
104 TopMed NC_000001.11 - 113699628 Apr 25, 2021 (155)
105 UK 10K study - Twins NC_000001.10 - 114242250 Oct 11, 2018 (152)
106 A Vietnamese Genetic Variation Database NC_000001.10 - 114242250 Jul 12, 2019 (153)
107 ALFA NC_000001.11 - 113699628 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87727051, ss108537282, ss165058774, ss167018895, ss198954630, ss275984614, ss290602248, ss1584968599, ss1712364420, ss2094847169 NC_000001.9:114043772:C:T NC_000001.11:113699627:C:T (self)
3277477, 1813228, 18988, 1293274, 1671698, 788600, 1960493, 33454, 688050, 829966, 1701654, 453565, 3726573, 1813228, 392626, ss218606181, ss230698569, ss238354860, ss554594612, ss648323882, ss975587764, ss1068205758, ss1292499176, ss1425942434, ss1574334121, ss1601025751, ss1644019784, ss1710916702, ss1794958024, ss1918788036, ss1958304608, ss1966845398, ss2019918446, ss2094972499, ss2147937211, ss2697867533, ss2759751364, ss2987466162, ss3021122657, ss3343642924, ss3646235064, ss3651455239, ss3651455240, ss3655555026, ss3727403185, ss3746692728, ss3825572235, ss3826378802, ss3836581096, ss3849684674, ss3894783099, ss3983941166, ss3983941167, ss3986131985, ss5145757266, ss5321290224, ss5623915718, ss5626331508, ss5800084110, ss5832506584, ss5848268414, ss5938199076, ss5981195957 NC_000001.10:114242249:C:T NC_000001.11:113699627:C:T (self)
4216420, 23181204, 158384, 1659683, 55628, 4885766, 27800731, 10877151683, ss2165851047, ss3023723760, ss3646756437, ss3687563967, ss3770834159, ss3799695561, ss3841989540, ss3945281682, ss4464194396, ss5237163217, ss5243667480, ss5444585031, ss5516690485, ss5671048662, ss5800946286, ss5849074701, ss5909867585 NC_000001.11:113699627:C:T NC_000001.11:113699627:C:T (self)
ss11409774 NT_019273.15:4678053:C:T NC_000001.11:113699627:C:T (self)
ss52077729 NT_019273.17:10328364:C:T NC_000001.11:113699627:C:T (self)
ss4938982, ss76499937, ss99242254, ss104887430, ss106596123, ss138063387, ss139732066 NT_032977.9:84214167:C:T NC_000001.11:113699627:C:T (self)
Help

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

No publications for rs3752953

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