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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.

rs10494626

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:189574446 (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
T>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.352480 (93298/264690, TOPMED)
C=0.370266 (51818/139948, GnomAD)
C=0.44725 (30448/68078, ALFA) (+ 19 more)
T=0.38295 (10819/28252, 14KJPN)
T=0.38089 (6383/16758, 8.3KJPN)
C=0.3459 (2215/6404, 1000G_30x)
C=0.3526 (1766/5008, 1000G)
T=0.4835 (2166/4480, Estonian)
C=0.4901 (1889/3854, ALSPAC)
C=0.4798 (1779/3708, TWINSUK)
T=0.4263 (1249/2930, KOREAN)
C=0.3990 (830/2080, HGDP_Stanford)
C=0.3214 (608/1892, HapMap)
T=0.4356 (798/1832, Korea1K)
C=0.481 (480/998, GoNL)
T=0.493 (296/600, NorthernSweden)
T=0.342 (102/298, SGDP_PRJ)
C=0.324 (70/216, Qatari)
T=0.463 (99/214, Vietnamese)
T=0.30 (14/46, Siberian)
T=0.35 (14/40, GENOME_DK)
T=0.42 (10/24, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105371657 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 68078 T=0.55275 C=0.44725
European Sub 55480 T=0.51752 C=0.48248
African Sub 4526 T=0.8875 C=0.1125
African Others Sub 170 T=0.965 C=0.035
African American Sub 4356 T=0.8845 C=0.1155
Asian Sub 190 T=0.468 C=0.532
East Asian Sub 148 T=0.419 C=0.581
Other Asian Sub 42 T=0.64 C=0.36
Latin American 1 Sub 254 T=0.646 C=0.354
Latin American 2 Sub 1230 T=0.6309 C=0.3691
South Asian Sub 4954 T=0.6034 C=0.3966
Other Sub 1444 T=0.6115 C=0.3885


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 T=0.647520 C=0.352480
gnomAD - Genomes Global Study-wide 139948 T=0.629734 C=0.370266
gnomAD - Genomes European Sub 75810 T=0.49883 C=0.50117
gnomAD - Genomes African Sub 41982 T=0.88864 C=0.11136
gnomAD - Genomes American Sub 13600 T=0.62596 C=0.37404
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.5810 C=0.4190
gnomAD - Genomes East Asian Sub 3088 T=0.4051 C=0.5949
gnomAD - Genomes Other Sub 2146 T=0.6118 C=0.3882
Allele Frequency Aggregator Total Global 68078 T=0.55275 C=0.44725
Allele Frequency Aggregator European Sub 55480 T=0.51752 C=0.48248
Allele Frequency Aggregator South Asian Sub 4954 T=0.6034 C=0.3966
Allele Frequency Aggregator African Sub 4526 T=0.8875 C=0.1125
Allele Frequency Aggregator Other Sub 1444 T=0.6115 C=0.3885
Allele Frequency Aggregator Latin American 2 Sub 1230 T=0.6309 C=0.3691
Allele Frequency Aggregator Latin American 1 Sub 254 T=0.646 C=0.354
Allele Frequency Aggregator Asian Sub 190 T=0.468 C=0.532
14KJPN JAPANESE Study-wide 28252 T=0.38295 C=0.61705
8.3KJPN JAPANESE Study-wide 16758 T=0.38089 C=0.61911
1000Genomes_30x Global Study-wide 6404 T=0.6541 C=0.3459
1000Genomes_30x African Sub 1786 T=0.9507 C=0.0493
1000Genomes_30x Europe Sub 1266 T=0.5261 C=0.4739
1000Genomes_30x South Asian Sub 1202 T=0.6106 C=0.3894
1000Genomes_30x East Asian Sub 1170 T=0.4120 C=0.5880
1000Genomes_30x American Sub 980 T=0.621 C=0.379
1000Genomes Global Study-wide 5008 T=0.6474 C=0.3526
1000Genomes African Sub 1322 T=0.9486 C=0.0514
1000Genomes East Asian Sub 1008 T=0.4127 C=0.5873
1000Genomes Europe Sub 1006 T=0.5298 C=0.4702
1000Genomes South Asian Sub 978 T=0.622 C=0.378
1000Genomes American Sub 694 T=0.621 C=0.379
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4835 C=0.5165
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.5099 C=0.4901
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.5202 C=0.4798
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.4263 A=0.0000, C=0.5737, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 T=0.6010 C=0.3990
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 T=0.436 C=0.564
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.543 C=0.457
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.603 C=0.397
HGDP-CEPH-db Supplement 1 Europe Sub 318 T=0.550 C=0.450
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.979 C=0.021
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.606 C=0.394
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.93 C=0.07
HapMap Global Study-wide 1892 T=0.6786 C=0.3214
HapMap American Sub 770 T=0.578 C=0.422
HapMap African Sub 692 T=0.923 C=0.077
HapMap Asian Sub 254 T=0.433 C=0.567
HapMap Europe Sub 176 T=0.511 C=0.489
Korean Genome Project KOREAN Study-wide 1832 T=0.4356 C=0.5644
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.519 C=0.481
Northern Sweden ACPOP Study-wide 600 T=0.493 C=0.507
SGDP_PRJ Global Study-wide 298 T=0.342 C=0.658
Qatari Global Study-wide 216 T=0.676 C=0.324
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.463 C=0.537
Siberian Global Study-wide 46 T=0.30 C=0.70
The Danish reference pan genome Danish Study-wide 40 T=0.35 C=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 24 T=0.42 C=0.58
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.189574446T>A
GRCh38.p14 chr 1 NC_000001.11:g.189574446T>C
GRCh38.p14 chr 1 NC_000001.11:g.189574446T>G
GRCh37.p13 chr 1 NC_000001.10:g.189543576T>A
GRCh37.p13 chr 1 NC_000001.10:g.189543576T>C
GRCh37.p13 chr 1 NC_000001.10:g.189543576T>G
Gene: LOC105371657, uncharacterized LOC105371657 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105371657 transcript variant X1 XR_002958413.2:n. N/A Intron Variant
LOC105371657 transcript variant X2 XR_001738343.2: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 T= A C G
GRCh38.p14 chr 1 NC_000001.11:g.189574446= NC_000001.11:g.189574446T>A NC_000001.11:g.189574446T>C NC_000001.11:g.189574446T>G
GRCh37.p13 chr 1 NC_000001.10:g.189543576= NC_000001.10:g.189543576T>A NC_000001.10:g.189543576T>C NC_000001.10:g.189543576T>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#.

96 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss14884019 Dec 05, 2003 (119)
2 PERLEGEN ss23837366 Sep 20, 2004 (123)
3 ABI ss43934224 Mar 13, 2006 (126)
4 AFFY ss65982301 Nov 29, 2006 (127)
5 ILLUMINA ss66888106 Nov 29, 2006 (127)
6 ILLUMINA ss66988390 Nov 29, 2006 (127)
7 ILLUMINA ss68085920 Dec 12, 2006 (127)
8 ILLUMINA ss70483961 May 23, 2008 (130)
9 ILLUMINA ss71007971 May 17, 2007 (127)
10 ILLUMINA ss75774109 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss84953895 Dec 14, 2007 (130)
12 BCMHGSC_JDW ss87908553 Mar 23, 2008 (129)
13 HUMANGENOME_JCVI ss99271177 Feb 03, 2009 (130)
14 BGI ss102806255 Dec 01, 2009 (131)
15 1000GENOMES ss108792729 Jan 23, 2009 (130)
16 1000GENOMES ss111518488 Jan 25, 2009 (130)
17 ENSEMBL ss138123339 Dec 01, 2009 (131)
18 ENSEMBL ss142791491 Dec 01, 2009 (131)
19 ILLUMINA ss152752779 Dec 01, 2009 (131)
20 GMI ss156057048 Dec 01, 2009 (131)
21 ILLUMINA ss159128865 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss164719604 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss165584521 Jul 04, 2010 (132)
24 ILLUMINA ss170200598 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss205197909 Jul 04, 2010 (132)
26 1000GENOMES ss218782581 Jul 14, 2010 (132)
27 1000GENOMES ss230827326 Jul 14, 2010 (132)
28 1000GENOMES ss238454354 Jul 15, 2010 (132)
29 BL ss253692104 May 09, 2011 (134)
30 GMI ss276143772 May 04, 2012 (137)
31 GMI ss284194854 Apr 25, 2013 (138)
32 PJP ss290686790 May 09, 2011 (134)
33 ILLUMINA ss536613406 Sep 08, 2015 (146)
34 TISHKOFF ss554971621 Apr 25, 2013 (138)
35 SSMP ss648574470 Apr 25, 2013 (138)
36 ILLUMINA ss832641556 Jul 12, 2019 (153)
37 EVA-GONL ss975938951 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1068456744 Aug 21, 2014 (142)
39 1000GENOMES ss1293896365 Aug 21, 2014 (142)
40 DDI ss1426053797 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1574552962 Apr 01, 2015 (144)
42 EVA_DECODE ss1585332104 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1601732632 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1644726665 Apr 01, 2015 (144)
45 EVA_SVP ss1712390352 Apr 01, 2015 (144)
46 WEILL_CORNELL_DGM ss1919173780 Feb 12, 2016 (147)
47 GENOMED ss1966925949 Jul 19, 2016 (147)
48 JJLAB ss2020103872 Sep 14, 2016 (149)
49 ILLUMINA ss2094988689 Dec 20, 2016 (150)
50 USC_VALOUEV ss2148131220 Dec 20, 2016 (150)
51 HUMAN_LONGEVITY ss2168533339 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2624559910 Nov 08, 2017 (151)
53 GRF ss2698116727 Nov 08, 2017 (151)
54 GNOMAD ss2764065522 Nov 08, 2017 (151)
55 SWEGEN ss2988142018 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3023811334 Nov 08, 2017 (151)
57 CSHL ss3343823763 Nov 08, 2017 (151)
58 ILLUMINA ss3626266114 Oct 11, 2018 (152)
59 ILLUMINA ss3637802763 Oct 11, 2018 (152)
60 ILLUMINA ss3638917160 Oct 11, 2018 (152)
61 ILLUMINA ss3639770479 Oct 11, 2018 (152)
62 ILLUMINA ss3642810449 Oct 11, 2018 (152)
63 ILLUMINA ss3643823741 Oct 11, 2018 (152)
64 URBANLAB ss3646844431 Oct 11, 2018 (152)
65 ILLUMINA ss3651501469 Oct 11, 2018 (152)
66 EGCUT_WGS ss3656095353 Jul 12, 2019 (153)
67 EVA_DECODE ss3688253693 Jul 12, 2019 (153)
68 ACPOP ss3727695340 Jul 12, 2019 (153)
69 EVA ss3747103833 Jul 12, 2019 (153)
70 PACBIO ss3783635316 Jul 12, 2019 (153)
71 PACBIO ss3789255579 Jul 12, 2019 (153)
72 PACBIO ss3794127717 Jul 12, 2019 (153)
73 KHV_HUMAN_GENOMES ss3800107764 Jul 12, 2019 (153)
74 EVA ss3826549277 Apr 25, 2020 (154)
75 EVA ss3836671589 Apr 25, 2020 (154)
76 EVA ss3842082182 Apr 25, 2020 (154)
77 HGDP ss3847357314 Apr 25, 2020 (154)
78 SGDP_PRJ ss3850506921 Apr 25, 2020 (154)
79 KRGDB ss3895775621 Apr 25, 2020 (154)
80 KOGIC ss3946123404 Apr 25, 2020 (154)
81 EVA ss3984840652 Apr 25, 2021 (155)
82 EVA ss4016951883 Apr 25, 2021 (155)
83 TOPMED ss4476867563 Apr 25, 2021 (155)
84 TOMMO_GENOMICS ss5147572721 Apr 25, 2021 (155)
85 1000G_HIGH_COVERAGE ss5245135656 Oct 12, 2022 (156)
86 EVA ss5323588317 Oct 12, 2022 (156)
87 HUGCELL_USP ss5445636024 Oct 12, 2022 (156)
88 EVA ss5506119471 Oct 12, 2022 (156)
89 1000G_HIGH_COVERAGE ss5518892878 Oct 12, 2022 (156)
90 SANFORD_IMAGENETICS ss5627072153 Oct 12, 2022 (156)
91 TOMMO_GENOMICS ss5675085061 Oct 12, 2022 (156)
92 YY_MCH ss5801470951 Oct 12, 2022 (156)
93 EVA ss5832997531 Oct 12, 2022 (156)
94 EVA ss5849205389 Oct 12, 2022 (156)
95 EVA ss5911215617 Oct 12, 2022 (156)
96 EVA ss5938891850 Oct 12, 2022 (156)
97 1000Genomes NC_000001.10 - 189543576 Oct 11, 2018 (152)
98 1000Genomes_30x NC_000001.11 - 189574446 Oct 12, 2022 (156)
99 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 189543576 Oct 11, 2018 (152)
100 Genetic variation in the Estonian population NC_000001.10 - 189543576 Oct 11, 2018 (152)
101 The Danish reference pan genome NC_000001.10 - 189543576 Apr 25, 2020 (154)
102 gnomAD - Genomes NC_000001.11 - 189574446 Apr 25, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000001.10 - 189543576 Apr 25, 2020 (154)
104 HGDP-CEPH-db Supplement 1 NC_000001.9 - 187810199 Apr 25, 2020 (154)
105 HapMap NC_000001.11 - 189574446 Apr 25, 2020 (154)
106 KOREAN population from KRGDB NC_000001.10 - 189543576 Apr 25, 2020 (154)
107 Korean Genome Project NC_000001.11 - 189574446 Apr 25, 2020 (154)
108 Northern Sweden NC_000001.10 - 189543576 Jul 12, 2019 (153)
109 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 189543576 Apr 25, 2021 (155)
110 Qatari NC_000001.10 - 189543576 Apr 25, 2020 (154)
111 SGDP_PRJ NC_000001.10 - 189543576 Apr 25, 2020 (154)
112 Siberian NC_000001.10 - 189543576 Apr 25, 2020 (154)
113 8.3KJPN NC_000001.10 - 189543576 Apr 25, 2021 (155)
114 14KJPN NC_000001.11 - 189574446 Oct 12, 2022 (156)
115 TopMed NC_000001.11 - 189574446 Apr 25, 2021 (155)
116 UK 10K study - Twins NC_000001.10 - 189543576 Oct 11, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000001.10 - 189543576 Jul 12, 2019 (153)
118 ALFA NC_000001.11 - 189574446 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)
rs57049793 May 23, 2008 (130)
rs386513678 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2953015, ss3895775621 NC_000001.10:189543575:T:A NC_000001.11:189574445:T:A (self)
ss3638917160, ss3639770479, ss3643823741 NC_000001.8:186275232:T:C NC_000001.11:189574445:T:C (self)
35206, ss87908553, ss108792729, ss111518488, ss164719604, ss165584521, ss205197909, ss253692104, ss276143772, ss284194854, ss290686790, ss1585332104, ss1712390352, ss3642810449, ss3847357314 NC_000001.9:187810198:T:C NC_000001.11:189574445:T:C (self)
4723096, 2590717, 1833601, 1807756, 1127878, 2953015, 980205, 66579, 1215710, 2523901, 647574, 5542028, 2590717, 557140, ss218782581, ss230827326, ss238454354, ss536613406, ss554971621, ss648574470, ss832641556, ss975938951, ss1068456744, ss1293896365, ss1426053797, ss1574552962, ss1601732632, ss1644726665, ss1919173780, ss1966925949, ss2020103872, ss2094988689, ss2148131220, ss2624559910, ss2698116727, ss2764065522, ss2988142018, ss3343823763, ss3626266114, ss3637802763, ss3651501469, ss3656095353, ss3727695340, ss3747103833, ss3783635316, ss3789255579, ss3794127717, ss3826549277, ss3836671589, ss3850506921, ss3895775621, ss3984840652, ss4016951883, ss5147572721, ss5323588317, ss5506119471, ss5627072153, ss5832997531, ss5938891850 NC_000001.10:189543575:T:C NC_000001.11:189574445:T:C (self)
6418813, 34053601, 227122, 2501405, 8922165, 40473898, 5822702180, ss2168533339, ss3023811334, ss3646844431, ss3688253693, ss3800107764, ss3842082182, ss3946123404, ss4476867563, ss5245135656, ss5445636024, ss5518892878, ss5675085061, ss5801470951, ss5849205389, ss5911215617 NC_000001.11:189574445:T:C NC_000001.11:189574445:T:C (self)
ss14884019, ss23837366, ss43934224, ss65982301, ss66888106, ss66988390, ss68085920, ss70483961, ss71007971, ss75774109, ss84953895, ss99271177, ss102806255, ss138123339, ss142791491, ss152752779, ss156057048, ss159128865, ss170200598 NT_004487.19:41032217:T:C NC_000001.11:189574445:T:C (self)
2953015, ss3895775621 NC_000001.10:189543575:T:G NC_000001.11:189574445:T:G (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 rs10494626

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