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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.

rs4747976

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6269350 (GRCh38.p13) 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>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.458740 (121424/264690, TOPMED)
T=0.450807 (63031/139818, GnomAD)
G=0.37166 (6229/16760, 8.3KJPN) (+ 15 more)
T=0.49755 (5072/10194, ALFA)
G=0.4920 (2464/5008, 1000G)
T=0.3571 (1600/4480, Estonian)
T=0.3456 (1332/3854, ALSPAC)
T=0.3557 (1319/3708, TWINSUK)
G=0.3577 (1048/2930, KOREAN)
G=0.4767 (902/1892, HapMap)
G=0.3854 (706/1832, Korea1K)
T=0.340 (339/998, GoNL)
T=0.332 (199/600, NorthernSweden)
T=0.312 (131/420, SGDP_PRJ)
T=0.366 (79/216, Qatari)
G=0.401 (85/212, Vietnamese)
T=0.26 (12/46, Siberian)
T=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 10 NC_000010.11:g.6269350T>C
GRCh38.p13 chr 10 NC_000010.11:g.6269350T>G
GRCh37.p13 chr 10 NC_000010.10:g.6311313T>C
GRCh37.p13 chr 10 NC_000010.10:g.6311313T>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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 10194 T=0.49755 C=0.00000, G=0.50245
European Sub 8184 T=0.4253 C=0.0000, G=0.5747
African Sub 1446 T=0.8064 C=0.0000, G=0.1936
African Others Sub 70 T=0.80 C=0.00, G=0.20
African American Sub 1376 T=0.8067 C=0.0000, G=0.1933
Asian Sub 62 T=0.98 C=0.00, G=0.02
East Asian Sub 46 T=0.98 C=0.00, G=0.02
Other Asian Sub 16 T=1.00 C=0.00, G=0.00
Latin American 1 Sub 30 T=1.00 C=0.00, G=0.00
Latin American 2 Sub 136 T=1.000 C=0.000, G=0.000
South Asian Sub 26 T=0.88 C=0.00, G=0.12
Other Sub 310 T=0.565 C=0.000, G=0.435


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=0.458740 G=0.541260
gnomAD - Genomes Global Study-wide 139818 T=0.450807 G=0.549193
gnomAD - Genomes European Sub 75780 T=0.36638 G=0.63362
gnomAD - Genomes African Sub 41858 T=0.59613 G=0.40387
gnomAD - Genomes American Sub 13600 T=0.44375 G=0.55625
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.4280 G=0.5720
gnomAD - Genomes East Asian Sub 3116 T=0.5924 G=0.4076
gnomAD - Genomes Other Sub 2146 T=0.4720 G=0.5280
8.3KJPN JAPANESE Study-wide 16760 T=0.62834 G=0.37166
Allele Frequency Aggregator Total Global 10194 T=0.49755 C=0.00000, G=0.50245
Allele Frequency Aggregator European Sub 8184 T=0.4253 C=0.0000, G=0.5747
Allele Frequency Aggregator African Sub 1446 T=0.8064 C=0.0000, G=0.1936
Allele Frequency Aggregator Other Sub 310 T=0.565 C=0.000, G=0.435
Allele Frequency Aggregator Latin American 2 Sub 136 T=1.000 C=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 62 T=0.98 C=0.00, G=0.02
Allele Frequency Aggregator Latin American 1 Sub 30 T=1.00 C=0.00, G=0.00
Allele Frequency Aggregator South Asian Sub 26 T=0.88 C=0.00, G=0.12
1000Genomes Global Study-wide 5008 T=0.5080 G=0.4920
1000Genomes African Sub 1322 T=0.6430 G=0.3570
1000Genomes East Asian Sub 1008 T=0.6012 G=0.3988
1000Genomes Europe Sub 1006 T=0.3787 G=0.6213
1000Genomes South Asian Sub 978 T=0.399 G=0.601
1000Genomes American Sub 694 T=0.457 G=0.543
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3571 G=0.6429
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3456 G=0.6544
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3557 G=0.6443
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6423 G=0.3577
HapMap Global Study-wide 1892 T=0.5233 G=0.4767
HapMap American Sub 770 T=0.447 G=0.553
HapMap African Sub 692 T=0.618 G=0.382
HapMap Asian Sub 254 T=0.594 G=0.406
HapMap Europe Sub 176 T=0.381 G=0.619
Korean Genome Project KOREAN Study-wide 1832 T=0.6146 G=0.3854
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.340 G=0.660
Northern Sweden ACPOP Study-wide 600 T=0.332 G=0.668
SGDP_PRJ Global Study-wide 420 T=0.312 G=0.688
Qatari Global Study-wide 216 T=0.366 G=0.634
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.599 G=0.401
Siberian Global Study-wide 46 T=0.26 G=0.74
The Danish reference pan genome Danish Study-wide 40 T=0.38 G=0.62
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= C G
GRCh38.p13 chr 10 NC_000010.11:g.6269350= NC_000010.11:g.6269350T>C NC_000010.11:g.6269350T>G
GRCh37.p13 chr 10 NC_000010.10:g.6311313= NC_000010.10:g.6311313T>C NC_000010.10:g.6311313T>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#.

64 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6546497 Feb 20, 2003 (111)
2 SC_SNP ss15791614 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss16463177 Feb 27, 2004 (120)
4 ABI ss39688010 Mar 13, 2006 (126)
5 KRIBB_YJKIM ss82109906 Dec 14, 2007 (130)
6 BCMHGSC_JDW ss88080929 Mar 23, 2008 (129)
7 BGI ss102850384 Dec 01, 2009 (131)
8 1000GENOMES ss109197441 Jan 23, 2009 (130)
9 ILLUMINA-UK ss119003910 Feb 15, 2009 (130)
10 ENSEMBL ss131661835 Dec 01, 2009 (131)
11 GMI ss154522749 Dec 01, 2009 (131)
12 ENSEMBL ss161352560 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss167743192 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss170369359 Jul 04, 2010 (132)
15 BUSHMAN ss201097491 Jul 04, 2010 (132)
16 BCM-HGSC-SUB ss207049538 Jul 04, 2010 (132)
17 1000GENOMES ss224544542 Jul 14, 2010 (132)
18 1000GENOMES ss235038075 Jul 15, 2010 (132)
19 1000GENOMES ss241773890 Jul 15, 2010 (132)
20 BL ss254025820 May 09, 2011 (134)
21 GMI ss280464758 May 04, 2012 (137)
22 GMI ss286122483 Apr 25, 2013 (138)
23 PJP ss290900162 May 09, 2011 (134)
24 TISHKOFF ss561745403 Apr 25, 2013 (138)
25 SSMP ss656251634 Apr 25, 2013 (138)
26 EVA-GONL ss987157309 Aug 21, 2014 (142)
27 JMKIDD_LAB ss1076731707 Aug 21, 2014 (142)
28 1000GENOMES ss1336130107 Aug 21, 2014 (142)
29 DDI ss1426208840 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1574889249 Apr 01, 2015 (144)
31 EVA_DECODE ss1596805274 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1623911765 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1666905798 Apr 01, 2015 (144)
34 EVA_SVP ss1713154103 Apr 01, 2015 (144)
35 HAMMER_LAB ss1806238301 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1930478239 Feb 12, 2016 (147)
37 GENOMED ss1967049547 Jul 19, 2016 (147)
38 JJLAB ss2025962248 Sep 14, 2016 (149)
39 USC_VALOUEV ss2154204292 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2172358467 Dec 20, 2016 (150)
41 TOPMED ss2335067568 Dec 20, 2016 (150)
42 SYSTEMSBIOZJU ss2627450032 Nov 08, 2017 (151)
43 GRF ss2698428199 Nov 08, 2017 (151)
44 GNOMAD ss2885105192 Nov 08, 2017 (151)
45 SWEGEN ss3005875626 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3026764642 Nov 08, 2017 (151)
47 TOPMED ss3110664043 Nov 08, 2017 (151)
48 CSHL ss3348941946 Nov 08, 2017 (151)
49 EGCUT_WGS ss3673402734 Jul 13, 2019 (153)
50 EVA_DECODE ss3689206558 Jul 13, 2019 (153)
51 ACPOP ss3737026926 Jul 13, 2019 (153)
52 EVA ss3747699654 Jul 13, 2019 (153)
53 PACBIO ss3786570200 Jul 13, 2019 (153)
54 PACBIO ss3791764091 Jul 13, 2019 (153)
55 PACBIO ss3796645871 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3813062630 Jul 13, 2019 (153)
57 EVA ss3831947027 Apr 26, 2020 (154)
58 EVA ss3839504350 Apr 26, 2020 (154)
59 EVA ss3844970332 Apr 26, 2020 (154)
60 SGDP_PRJ ss3873453491 Apr 26, 2020 (154)
61 KRGDB ss3921388955 Apr 26, 2020 (154)
62 KOGIC ss3967131359 Apr 26, 2020 (154)
63 TOPMED ss4841242909 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5196096835 Apr 26, 2021 (155)
65 1000Genomes NC_000010.10 - 6311313 Oct 12, 2018 (152)
66 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6311313 Oct 12, 2018 (152)
67 Genetic variation in the Estonian population NC_000010.10 - 6311313 Oct 12, 2018 (152)
68 The Danish reference pan genome NC_000010.10 - 6311313 Apr 26, 2020 (154)
69 gnomAD - Genomes NC_000010.11 - 6269350 Apr 26, 2021 (155)
70 Genome of the Netherlands Release 5 NC_000010.10 - 6311313 Apr 26, 2020 (154)
71 HapMap NC_000010.11 - 6269350 Apr 26, 2020 (154)
72 KOREAN population from KRGDB NC_000010.10 - 6311313 Apr 26, 2020 (154)
73 Korean Genome Project NC_000010.11 - 6269350 Apr 26, 2020 (154)
74 Northern Sweden NC_000010.10 - 6311313 Jul 13, 2019 (153)
75 Qatari NC_000010.10 - 6311313 Apr 26, 2020 (154)
76 SGDP_PRJ NC_000010.10 - 6311313 Apr 26, 2020 (154)
77 Siberian NC_000010.10 - 6311313 Apr 26, 2020 (154)
78 8.3KJPN NC_000010.10 - 6311313 Apr 26, 2021 (155)
79 TopMed NC_000010.11 - 6269350 Apr 26, 2021 (155)
80 UK 10K study - Twins NC_000010.10 - 6311313 Oct 12, 2018 (152)
81 A Vietnamese Genetic Variation Database NC_000010.10 - 6311313 Jul 13, 2019 (153)
82 ALFA NC_000010.11 - 6269350 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)
rs56555872 May 25, 2008 (130)
rs56912963 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1765820009 NC_000010.11:6269349:T:C NC_000010.11:6269349:T:C
ss88080929, ss109197441, ss119003910, ss167743192, ss170369359, ss201097491, ss207049538, ss254025820, ss280464758, ss286122483, ss290900162, ss1596805274, ss1713154103 NC_000010.9:6351318:T:G NC_000010.11:6269349:T:G (self)
48471420, 26932166, 19140982, 2014453, 12012193, 28566349, 10311791, 12520169, 25470471, 6720646, 54066142, 26932166, 5978578, ss224544542, ss235038075, ss241773890, ss561745403, ss656251634, ss987157309, ss1076731707, ss1336130107, ss1426208840, ss1574889249, ss1623911765, ss1666905798, ss1806238301, ss1930478239, ss1967049547, ss2025962248, ss2154204292, ss2335067568, ss2627450032, ss2698428199, ss2885105192, ss3005875626, ss3348941946, ss3673402734, ss3737026926, ss3747699654, ss3786570200, ss3791764091, ss3796645871, ss3831947027, ss3839504350, ss3873453491, ss3921388955, ss5196096835 NC_000010.10:6311312:T:G NC_000010.11:6269349:T:G (self)
342415838, 330065, 23509360, 35683750, 56788564, 1765820009, ss2172358467, ss3026764642, ss3110664043, ss3689206558, ss3813062630, ss3844970332, ss3967131359, ss4841242909 NC_000010.11:6269349:T:G NC_000010.11:6269349:T:G (self)
ss6546497, ss39688010, ss82109906, ss102850384, ss131661835, ss154522749, ss161352560 NT_008705.16:6251312:T:G NC_000010.11:6269349:T:G (self)
ss15791614, ss16463177 NT_077569.2:674208:T:G NC_000010.11:6269349: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 rs4747976

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.post596+ae089ad