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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.

rs6496932

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr15:85282336 (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>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.211735 (74773/353144, ALFA)
A=0.285798 (75648/264690, TOPMED)
A=0.285452 (39909/139810, GnomAD) (+ 21 more)
A=0.34651 (27270/78700, PAGE_STUDY)
A=0.30636 (8657/28258, 14KJPN)
A=0.30280 (5075/16760, 8.3KJPN)
A=0.3463 (2218/6404, 1000G_30x)
A=0.3435 (1720/5008, 1000G)
A=0.1767 (681/3854, ALSPAC)
A=0.1756 (651/3708, TWINSUK)
A=0.3498 (1025/2930, KOREAN)
A=0.3124 (651/2084, HGDP_Stanford)
A=0.3440 (646/1878, HapMap)
A=0.3395 (622/1832, Korea1K)
A=0.2264 (254/1122, Daghestan)
A=0.168 (168/998, GoNL)
A=0.192 (120/626, Chileans)
A=0.165 (99/600, NorthernSweden)
C=0.367 (102/278, SGDP_PRJ)
A=0.245 (53/216, Qatari)
A=0.318 (68/214, Vietnamese)
A=0.21 (18/84, Ancient Sardinia)
A=0.23 (9/40, GENOME_DK)
C=0.46 (13/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
6 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 358392 C=0.787481 A=0.212519, G=0.000000
European Sub 305364 C=0.804397 A=0.195603, G=0.000000
African Sub 12552 C=0.56047 A=0.43953, G=0.00000
African Others Sub 448 C=0.498 A=0.502, G=0.000
African American Sub 12104 C=0.56279 A=0.43721, G=0.00000
Asian Sub 6960 C=0.6704 A=0.3296, G=0.0000
East Asian Sub 4992 C=0.6661 A=0.3339, G=0.0000
Other Asian Sub 1968 C=0.6814 A=0.3186, G=0.0000
Latin American 1 Sub 1280 C=0.6859 A=0.3141, G=0.0000
Latin American 2 Sub 9370 C=0.7819 A=0.2181, G=0.0000
South Asian Sub 5216 C=0.6472 A=0.3528, G=0.0000
Other Sub 17650 C=0.75422 A=0.24578, G=0.00000


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 353144 C=0.788265 A=0.211735, G=0.000000
Allele Frequency Aggregator European Sub 302090 C=0.804393 A=0.195607, G=0.000000
Allele Frequency Aggregator Other Sub 16828 C=0.75582 A=0.24418, G=0.00000
Allele Frequency Aggregator African Sub 11400 C=0.56202 A=0.43798, G=0.00000
Allele Frequency Aggregator Latin American 2 Sub 9370 C=0.7819 A=0.2181, G=0.0000
Allele Frequency Aggregator Asian Sub 6960 C=0.6704 A=0.3296, G=0.0000
Allele Frequency Aggregator South Asian Sub 5216 C=0.6472 A=0.3528, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1280 C=0.6859 A=0.3141, G=0.0000
TopMed Global Study-wide 264690 C=0.714202 A=0.285798
gnomAD - Genomes Global Study-wide 139810 C=0.714548 A=0.285452
gnomAD - Genomes European Sub 75804 C=0.79692 A=0.20308
gnomAD - Genomes African Sub 41816 C=0.55950 A=0.44050
gnomAD - Genomes American Sub 13612 C=0.74809 A=0.25191
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.6963 A=0.3037
gnomAD - Genomes East Asian Sub 3114 C=0.6612 A=0.3388
gnomAD - Genomes Other Sub 2142 C=0.7190 A=0.2810
The PAGE Study Global Study-wide 78700 C=0.65349 A=0.34651
The PAGE Study AfricanAmerican Sub 32516 C=0.56381 A=0.43619
The PAGE Study Mexican Sub 10810 C=0.78538 A=0.21462
The PAGE Study Asian Sub 8318 C=0.6838 A=0.3162
The PAGE Study PuertoRican Sub 7918 C=0.7059 A=0.2941
The PAGE Study NativeHawaiian Sub 4534 C=0.6509 A=0.3491
The PAGE Study Cuban Sub 4230 C=0.7173 A=0.2827
The PAGE Study Dominican Sub 3826 C=0.6647 A=0.3353
The PAGE Study CentralAmerican Sub 2450 C=0.7294 A=0.2706
The PAGE Study SouthAmerican Sub 1982 C=0.7644 A=0.2356
The PAGE Study NativeAmerican Sub 1260 C=0.7627 A=0.2373
The PAGE Study SouthAsian Sub 856 C=0.630 A=0.370
14KJPN JAPANESE Study-wide 28258 C=0.69364 A=0.30636
8.3KJPN JAPANESE Study-wide 16760 C=0.69720 A=0.30280
1000Genomes_30x Global Study-wide 6404 C=0.6537 A=0.3463
1000Genomes_30x African Sub 1786 C=0.5106 A=0.4894
1000Genomes_30x Europe Sub 1266 C=0.7717 A=0.2283
1000Genomes_30x South Asian Sub 1202 C=0.6215 A=0.3785
1000Genomes_30x East Asian Sub 1170 C=0.6726 A=0.3274
1000Genomes_30x American Sub 980 C=0.779 A=0.221
1000Genomes Global Study-wide 5008 C=0.6565 A=0.3435
1000Genomes African Sub 1322 C=0.5136 A=0.4864
1000Genomes East Asian Sub 1008 C=0.6786 A=0.3214
1000Genomes Europe Sub 1006 C=0.7644 A=0.2356
1000Genomes South Asian Sub 978 C=0.630 A=0.370
1000Genomes American Sub 694 C=0.778 A=0.222
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8233 A=0.1767
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8244 A=0.1756
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6502 A=0.3498, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6876 A=0.3124
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.694 A=0.306
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.681 A=0.319
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.717 A=0.283
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.781 A=0.219
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.483 A=0.517
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.824 A=0.176
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.40 A=0.60
HapMap Global Study-wide 1878 C=0.6560 A=0.3440
HapMap American Sub 766 C=0.687 A=0.313
HapMap African Sub 682 C=0.588 A=0.412
HapMap Asian Sub 254 C=0.657 A=0.343
HapMap Europe Sub 176 C=0.784 A=0.216
Korean Genome Project KOREAN Study-wide 1832 C=0.6605 A=0.3395
Genome-wide autozygosity in Daghestan Global Study-wide 1122 C=0.7736 A=0.2264
Genome-wide autozygosity in Daghestan Daghestan Sub 618 C=0.812 A=0.188
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.715 A=0.285
Genome-wide autozygosity in Daghestan Central Asia Sub 120 C=0.758 A=0.242
Genome-wide autozygosity in Daghestan Europe Sub 106 C=0.840 A=0.160
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.55 A=0.45
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.81 A=0.19
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.832 A=0.168
Chileans Chilean Study-wide 626 C=0.808 A=0.192
Northern Sweden ACPOP Study-wide 600 C=0.835 A=0.165
SGDP_PRJ Global Study-wide 278 C=0.367 A=0.633
Qatari Global Study-wide 216 C=0.755 A=0.245
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.682 A=0.318
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 C=0.79 A=0.21
The Danish reference pan genome Danish Study-wide 40 C=0.78 A=0.23
Siberian Global Study-wide 28 C=0.46 A=0.54
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 15 NC_000015.10:g.85282336C>A
GRCh38.p14 chr 15 NC_000015.10:g.85282336C>G
GRCh37.p13 chr 15 NC_000015.9:g.85825567C>A
GRCh37.p13 chr 15 NC_000015.9:g.85825567C>G
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= A G
GRCh38.p14 chr 15 NC_000015.10:g.85282336= NC_000015.10:g.85282336C>A NC_000015.10:g.85282336C>G
GRCh37.p13 chr 15 NC_000015.9:g.85825567= NC_000015.9:g.85825567C>A NC_000015.9:g.85825567C>G
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#.

158 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10789795 Jul 11, 2003 (116)
2 WI_SSAHASNP ss12332837 Jul 11, 2003 (116)
3 AFFY ss66291318 Nov 29, 2006 (127)
4 ILLUMINA ss66784111 Nov 29, 2006 (127)
5 ILLUMINA ss67463261 Nov 29, 2006 (127)
6 ILLUMINA ss67817035 Nov 29, 2006 (127)
7 PERLEGEN ss69183258 May 16, 2007 (127)
8 ILLUMINA ss70868761 May 23, 2008 (130)
9 ILLUMINA ss71457269 May 16, 2007 (127)
10 ILLUMINA ss75751046 Dec 06, 2007 (129)
11 AFFY ss75956270 Dec 06, 2007 (129)
12 ILLUMINA ss79223081 Dec 14, 2007 (130)
13 KRIBB_YJKIM ss84490647 Dec 14, 2007 (130)
14 HGSV ss84706911 Dec 14, 2007 (130)
15 HUMANGENOME_JCVI ss96829561 Feb 04, 2009 (130)
16 BGI ss103257452 Dec 01, 2009 (131)
17 1000GENOMES ss114480068 Jan 25, 2009 (130)
18 ILLUMINA-UK ss118308729 Feb 14, 2009 (130)
19 ILLUMINA ss122553928 Dec 01, 2009 (131)
20 ENSEMBL ss144094010 Dec 01, 2009 (131)
21 ILLUMINA ss154363976 Dec 01, 2009 (131)
22 GMI ss156809845 Dec 01, 2009 (131)
23 ILLUMINA ss159540144 Dec 01, 2009 (131)
24 ILLUMINA ss160780420 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168417934 Jul 04, 2010 (132)
26 AFFY ss169648249 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss170079451 Jul 04, 2010 (132)
28 ILLUMINA ss172135901 Jul 04, 2010 (132)
29 ILLUMINA ss174018305 Jul 04, 2010 (132)
30 BUSHMAN ss201114995 Jul 04, 2010 (132)
31 1000GENOMES ss227008603 Jul 14, 2010 (132)
32 1000GENOMES ss236861067 Jul 15, 2010 (132)
33 1000GENOMES ss243232825 Jul 15, 2010 (132)
34 GMI ss282344319 May 04, 2012 (137)
35 PJP ss291765338 May 09, 2011 (134)
36 ILLUMINA ss481262588 May 04, 2012 (137)
37 ILLUMINA ss481286836 May 04, 2012 (137)
38 ILLUMINA ss482271111 Sep 08, 2015 (146)
39 ILLUMINA ss485426568 May 04, 2012 (137)
40 EXOME_CHIP ss491498776 May 04, 2012 (137)
41 ILLUMINA ss537356831 Sep 08, 2015 (146)
42 TISHKOFF ss564618386 Apr 25, 2013 (138)
43 SSMP ss660359942 Apr 25, 2013 (138)
44 ILLUMINA ss778570405 Sep 08, 2015 (146)
45 ILLUMINA ss780685864 Sep 08, 2015 (146)
46 ILLUMINA ss783158729 Sep 08, 2015 (146)
47 ILLUMINA ss783359368 Sep 08, 2015 (146)
48 ILLUMINA ss784114559 Sep 08, 2015 (146)
49 ILLUMINA ss825553599 Jul 19, 2016 (147)
50 ILLUMINA ss832418064 Sep 08, 2015 (146)
51 ILLUMINA ss833051351 Jul 13, 2019 (153)
52 ILLUMINA ss834027418 Sep 08, 2015 (146)
53 EVA-GONL ss992028382 Aug 21, 2014 (142)
54 JMKIDD_LAB ss1080298059 Aug 21, 2014 (142)
55 1000GENOMES ss1354405517 Aug 21, 2014 (142)
56 HAMMER_LAB ss1397703149 Sep 08, 2015 (146)
57 DDI ss1427699038 Apr 01, 2015 (144)
58 EVA_GENOME_DK ss1577730781 Apr 01, 2015 (144)
59 EVA_UK10K_ALSPAC ss1633501025 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1676495058 Apr 01, 2015 (144)
61 EVA_DECODE ss1696054876 Apr 01, 2015 (144)
62 EVA_SVP ss1713507504 Apr 01, 2015 (144)
63 ILLUMINA ss1752174714 Sep 08, 2015 (146)
64 ILLUMINA ss1752174715 Sep 08, 2015 (146)
65 HAMMER_LAB ss1808305290 Sep 08, 2015 (146)
66 ILLUMINA ss1917900070 Feb 12, 2016 (147)
67 WEILL_CORNELL_DGM ss1935429671 Feb 12, 2016 (147)
68 ILLUMINA ss1946400803 Feb 12, 2016 (147)
69 ILLUMINA ss1946400804 Feb 12, 2016 (147)
70 ILLUMINA ss1959632834 Feb 12, 2016 (147)
71 ILLUMINA ss1959632835 Feb 12, 2016 (147)
72 GENOMED ss1968162458 Jul 19, 2016 (147)
73 JJLAB ss2028497976 Sep 14, 2016 (149)
74 USC_VALOUEV ss2156906751 Dec 20, 2016 (150)
75 SYSTEMSBIOZJU ss2628744333 Nov 08, 2017 (151)
76 ILLUMINA ss2633259717 Nov 08, 2017 (151)
77 ILLUMINA ss2633259718 Nov 08, 2017 (151)
78 ILLUMINA ss2633259719 Nov 08, 2017 (151)
79 GRF ss2701390735 Nov 08, 2017 (151)
80 ILLUMINA ss2710822304 Nov 08, 2017 (151)
81 GNOMAD ss2937630508 Nov 08, 2017 (151)
82 AFFY ss2985049262 Nov 08, 2017 (151)
83 AFFY ss2985690888 Nov 08, 2017 (151)
84 SWEGEN ss3013671383 Nov 08, 2017 (151)
85 ILLUMINA ss3021656201 Nov 08, 2017 (151)
86 ILLUMINA ss3021656202 Nov 08, 2017 (151)
87 BIOINF_KMB_FNS_UNIBA ss3028072918 Nov 08, 2017 (151)
88 CSHL ss3351219603 Nov 08, 2017 (151)
89 ILLUMINA ss3625679867 Oct 12, 2018 (152)
90 ILLUMINA ss3627417366 Oct 12, 2018 (152)
91 ILLUMINA ss3627417367 Oct 12, 2018 (152)
92 ILLUMINA ss3631250375 Oct 12, 2018 (152)
93 ILLUMINA ss3633105201 Oct 12, 2018 (152)
94 ILLUMINA ss3633810209 Oct 12, 2018 (152)
95 ILLUMINA ss3634618363 Oct 12, 2018 (152)
96 ILLUMINA ss3634618364 Oct 12, 2018 (152)
97 ILLUMINA ss3635498938 Oct 12, 2018 (152)
98 ILLUMINA ss3636309210 Oct 12, 2018 (152)
99 ILLUMINA ss3637250253 Oct 12, 2018 (152)
100 ILLUMINA ss3638099679 Oct 12, 2018 (152)
101 ILLUMINA ss3639062255 Oct 12, 2018 (152)
102 ILLUMINA ss3639536730 Oct 12, 2018 (152)
103 ILLUMINA ss3640325683 Oct 12, 2018 (152)
104 ILLUMINA ss3640325684 Oct 12, 2018 (152)
105 ILLUMINA ss3641064185 Oct 12, 2018 (152)
106 ILLUMINA ss3641359610 Oct 12, 2018 (152)
107 ILLUMINA ss3643082941 Oct 12, 2018 (152)
108 ILLUMINA ss3644653909 Oct 12, 2018 (152)
109 ILLUMINA ss3644653910 Oct 12, 2018 (152)
110 URBANLAB ss3650407780 Oct 12, 2018 (152)
111 ILLUMINA ss3652058675 Oct 12, 2018 (152)
112 ILLUMINA ss3652058676 Oct 12, 2018 (152)
113 ILLUMINA ss3653821654 Oct 12, 2018 (152)
114 EVA_DECODE ss3698357812 Jul 13, 2019 (153)
115 ILLUMINA ss3725520299 Jul 13, 2019 (153)
116 ACPOP ss3741126129 Jul 13, 2019 (153)
117 ILLUMINA ss3744134519 Jul 13, 2019 (153)
118 ILLUMINA ss3744424128 Jul 13, 2019 (153)
119 ILLUMINA ss3744918896 Jul 13, 2019 (153)
120 ILLUMINA ss3744918897 Jul 13, 2019 (153)
121 EVA ss3753379614 Jul 13, 2019 (153)
122 PAGE_CC ss3771846591 Jul 13, 2019 (153)
123 ILLUMINA ss3772417408 Jul 13, 2019 (153)
124 ILLUMINA ss3772417409 Jul 13, 2019 (153)
125 PACBIO ss3787914220 Jul 13, 2019 (153)
126 PACBIO ss3792915253 Jul 13, 2019 (153)
127 PACBIO ss3797799833 Jul 13, 2019 (153)
128 KHV_HUMAN_GENOMES ss3818681812 Jul 13, 2019 (153)
129 EVA ss3834350295 Apr 27, 2020 (154)
130 HGDP ss3847531203 Apr 27, 2020 (154)
131 SGDP_PRJ ss3883415189 Apr 27, 2020 (154)
132 KRGDB ss3932657066 Apr 27, 2020 (154)
133 KOGIC ss3976634727 Apr 27, 2020 (154)
134 EVA ss3984705217 Apr 26, 2021 (155)
135 EVA ss3984705218 Apr 26, 2021 (155)
136 EVA ss3985730934 Apr 26, 2021 (155)
137 EVA ss4017714240 Apr 26, 2021 (155)
138 TOPMED ss4999707388 Apr 26, 2021 (155)
139 TOMMO_GENOMICS ss5217313875 Apr 26, 2021 (155)
140 EVA ss5237555080 Apr 26, 2021 (155)
141 1000G_HIGH_COVERAGE ss5299275850 Oct 16, 2022 (156)
142 EVA ss5315802180 Oct 16, 2022 (156)
143 EVA ss5420756166 Oct 16, 2022 (156)
144 HUGCELL_USP ss5492907240 Oct 16, 2022 (156)
145 EVA ss5511505654 Oct 16, 2022 (156)
146 1000G_HIGH_COVERAGE ss5601094672 Oct 16, 2022 (156)
147 SANFORD_IMAGENETICS ss5624367179 Oct 16, 2022 (156)
148 SANFORD_IMAGENETICS ss5657976014 Oct 16, 2022 (156)
149 TOMMO_GENOMICS ss5771460465 Oct 16, 2022 (156)
150 EVA ss5799944497 Oct 16, 2022 (156)
151 YY_MCH ss5815543564 Oct 16, 2022 (156)
152 EVA ss5828523223 Oct 16, 2022 (156)
153 EVA ss5847453208 Oct 16, 2022 (156)
154 EVA ss5847752493 Oct 16, 2022 (156)
155 EVA ss5851388518 Oct 16, 2022 (156)
156 EVA ss5876825204 Oct 16, 2022 (156)
157 EVA ss5949395146 Oct 16, 2022 (156)
158 EVA ss5979469214 Oct 16, 2022 (156)
159 1000Genomes NC_000015.9 - 85825567 Oct 12, 2018 (152)
160 1000Genomes_30x NC_000015.10 - 85282336 Oct 16, 2022 (156)
161 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 85825567 Oct 12, 2018 (152)
162 Chileans NC_000015.9 - 85825567 Apr 27, 2020 (154)
163 Genome-wide autozygosity in Daghestan NC_000015.8 - 83626571 Apr 27, 2020 (154)
164 The Danish reference pan genome NC_000015.9 - 85825567 Apr 27, 2020 (154)
165 gnomAD - Genomes NC_000015.10 - 85282336 Apr 26, 2021 (155)
166 Genome of the Netherlands Release 5 NC_000015.9 - 85825567 Apr 27, 2020 (154)
167 HGDP-CEPH-db Supplement 1 NC_000015.8 - 83626571 Apr 27, 2020 (154)
168 HapMap NC_000015.10 - 85282336 Apr 27, 2020 (154)
169 KOREAN population from KRGDB NC_000015.9 - 85825567 Apr 27, 2020 (154)
170 Korean Genome Project NC_000015.10 - 85282336 Apr 27, 2020 (154)
171 Northern Sweden NC_000015.9 - 85825567 Jul 13, 2019 (153)
172 The PAGE Study NC_000015.10 - 85282336 Jul 13, 2019 (153)
173 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000015.9 - 85825567 Apr 26, 2021 (155)
174 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 254745 (NC_000015.9:85825566:C:A 278/790)
Row 254746 (NC_000015.9:85825566:C:A 278/788)

- Apr 26, 2021 (155)
175 CNV burdens in cranial meningiomas

Submission ignored due to conflicting rows:
Row 254745 (NC_000015.9:85825566:C:A 278/790)
Row 254746 (NC_000015.9:85825566:C:A 278/788)

- Apr 26, 2021 (155)
176 Qatari NC_000015.9 - 85825567 Apr 27, 2020 (154)
177 SGDP_PRJ NC_000015.9 - 85825567 Apr 27, 2020 (154)
178 Siberian NC_000015.9 - 85825567 Apr 27, 2020 (154)
179 8.3KJPN NC_000015.9 - 85825567 Apr 26, 2021 (155)
180 14KJPN NC_000015.10 - 85282336 Oct 16, 2022 (156)
181 TopMed NC_000015.10 - 85282336 Apr 26, 2021 (155)
182 UK 10K study - Twins NC_000015.9 - 85825567 Oct 12, 2018 (152)
183 A Vietnamese Genetic Variation Database NC_000015.9 - 85825567 Jul 13, 2019 (153)
184 ALFA NC_000015.10 - 85282336 Apr 26, 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)
rs57625245 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
173263, 209095, ss84706911, ss114480068, ss118308729, ss168417934, ss170079451, ss201114995, ss282344319, ss291765338, ss481262588, ss825553599, ss1397703149, ss1696054876, ss1713507504, ss3639062255, ss3639536730, ss3643082941, ss3847531203 NC_000015.8:83626570:C:A NC_000015.10:85282335:C:A (self)
67511218, 37490879, 157993, 3950696, 16729104, 39834460, 14410994, 956861, 17471601, 35432169, 9423105, 75283182, 37490879, 8333386, ss227008603, ss236861067, ss243232825, ss481286836, ss482271111, ss485426568, ss491498776, ss537356831, ss564618386, ss660359942, ss778570405, ss780685864, ss783158729, ss783359368, ss784114559, ss832418064, ss833051351, ss834027418, ss992028382, ss1080298059, ss1354405517, ss1427699038, ss1577730781, ss1633501025, ss1676495058, ss1752174714, ss1752174715, ss1808305290, ss1917900070, ss1935429671, ss1946400803, ss1946400804, ss1959632834, ss1959632835, ss1968162458, ss2028497976, ss2156906751, ss2628744333, ss2633259717, ss2633259718, ss2633259719, ss2701390735, ss2710822304, ss2937630508, ss2985049262, ss2985690888, ss3013671383, ss3021656201, ss3021656202, ss3351219603, ss3625679867, ss3627417366, ss3627417367, ss3631250375, ss3633105201, ss3633810209, ss3634618363, ss3634618364, ss3635498938, ss3636309210, ss3637250253, ss3638099679, ss3640325683, ss3640325684, ss3641064185, ss3641359610, ss3644653909, ss3644653910, ss3652058675, ss3652058676, ss3653821654, ss3741126129, ss3744134519, ss3744424128, ss3744918896, ss3744918897, ss3753379614, ss3772417408, ss3772417409, ss3787914220, ss3792915253, ss3797799833, ss3834350295, ss3883415189, ss3932657066, ss3984705217, ss3984705218, ss3985730934, ss4017714240, ss5217313875, ss5237555080, ss5315802180, ss5420756166, ss5511505654, ss5624367179, ss5657976014, ss5799944497, ss5828523223, ss5847453208, ss5847752493, ss5949395146, ss5979469214 NC_000015.9:85825566:C:A NC_000015.10:85282335:C:A (self)
88620607, 476021159, 1306732, 33012728, 1068060, 105297569, 215253048, 2757388407, ss3028072918, ss3650407780, ss3698357812, ss3725520299, ss3771846591, ss3818681812, ss3976634727, ss4999707388, ss5299275850, ss5492907240, ss5601094672, ss5771460465, ss5815543564, ss5851388518, ss5876825204 NC_000015.10:85282335:C:A NC_000015.10:85282335:C:A (self)
ss10789795, ss12332837 NT_010274.15:791093:C:A NC_000015.10:85282335:C:A (self)
ss66291318, ss66784111, ss67463261, ss67817035, ss69183258, ss70868761, ss71457269, ss75751046, ss75956270, ss79223081, ss84490647, ss96829561, ss103257452, ss122553928, ss144094010, ss154363976, ss156809845, ss159540144, ss160780420, ss169648249, ss172135901, ss174018305 NT_010274.17:791093:C:A NC_000015.10:85282335:C:A (self)
39834460, ss3932657066 NC_000015.9:85825566:C:G NC_000015.10:85282335:C:G (self)
2757388407 NC_000015.10:85282335:C:G NC_000015.10:85282335:C:G (self)
Help

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

6 citations for rs6496932
PMID Title Author Year Journal
20719862 New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Vitart V et al. 2010 Human molecular genetics
21984434 Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations. Cornes BK et al. 2012 Human molecular genetics
22605921 Genome-wide association study of primary open angle glaucoma risk and quantitative traits. Gibson J et al. 2012 Molecular vision
23110055 Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy. Igo RP Jr et al. 2012 PloS one
23291589 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Lu Y et al. 2013 Nature genetics
26690118 An Updated Review on the Genetics of Primary Open Angle Glaucoma. Abu-Amero K et al. 2015 International journal of molecular sciences
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.post761+d5e8e07