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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.

rs4951929

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:822354 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.271113 (71761/264690, TOPMED)
C=0.16824 (2818/16750, 8.3KJPN)
C=0.34092 (3641/10680, ALFA) (+ 10 more)
C=0.2518 (1261/5008, 1000G)
C=0.1238 (477/3854, ALSPAC)
C=0.1305 (484/3708, TWINSUK)
C=0.1639 (480/2928, KOREAN)
C=0.1643 (301/1832, Korea1K)
C=0.149 (149/998, GoNL)
C=0.133 (80/600, NorthernSweden)
C=0.147 (78/532, SGDP_PRJ)
C=0.213 (46/216, Qatari)
C=0.13 (7/52, Siberian)
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 1 NC_000001.11:g.822354C>A
GRCh38.p13 chr 1 NC_000001.11:g.822354C>G
GRCh38.p13 chr 1 NC_000001.11:g.822354C>T
GRCh37.p13 chr 1 NC_000001.10:g.757734C>A
GRCh37.p13 chr 1 NC_000001.10:g.757734C>G
GRCh37.p13 chr 1 NC_000001.10:g.757734C>T
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 10680 C=0.34092 A=0.00000, T=0.65908
European Sub 6800 C=0.1872 A=0.0000, T=0.8128
African Sub 3506 C=0.6301 A=0.0000, T=0.3699
African Others Sub 134 C=0.746 A=0.000, T=0.254
African American Sub 3372 C=0.6254 A=0.0000, T=0.3746
Asian Sub 6 C=0.3 A=0.0, T=0.7
East Asian Sub 4 C=0.5 A=0.0, T=0.5
Other Asian Sub 2 C=0.0 A=0.0, T=1.0
Latin American 1 Sub 16 C=1.00 A=0.00, T=0.00
Latin American 2 Sub 30 C=1.00 A=0.00, T=0.00
South Asian Sub 6 C=0.3 A=0.0, T=0.7
Other Sub 316 C=0.345 A=0.000, T=0.655


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=0.271113 T=0.728887
8.3KJPN JAPANESE Study-wide 16750 C=0.16824 T=0.83176
1000Genomes Global Study-wide 5008 C=0.2518 T=0.7482
1000Genomes African Sub 1322 C=0.5537 T=0.4463
1000Genomes East Asian Sub 1008 C=0.1161 T=0.8839
1000Genomes Europe Sub 1006 C=0.1272 T=0.8728
1000Genomes South Asian Sub 978 C=0.164 T=0.836
1000Genomes American Sub 694 C=0.179 T=0.821
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.1238 T=0.8762
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.1305 T=0.8695
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.1639 G=0.0000, T=0.8361
Korean Genome Project KOREAN Study-wide 1832 C=0.1643 T=0.8357
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.149 T=0.851
Northern Sweden ACPOP Study-wide 600 C=0.133 T=0.867
SGDP_PRJ Global Study-wide 532 C=0.147 T=0.853
Qatari Global Study-wide 216 C=0.213 T=0.787
Siberian Global Study-wide 52 C=0.13 T=0.87
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 T
GRCh38.p13 chr 1 NC_000001.11:g.822354= NC_000001.11:g.822354C>A NC_000001.11:g.822354C>G NC_000001.11:g.822354C>T
GRCh37.p13 chr 1 NC_000001.10:g.757734= NC_000001.10:g.757734C>A NC_000001.10:g.757734C>G NC_000001.10:g.757734C>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#.

55 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6851735 Feb 20, 2003 (111)
2 CSHL-HAPMAP ss19870963 Feb 27, 2004 (120)
3 HUMANGENOME_JCVI ss97913198 Feb 06, 2009 (130)
4 BGI ss105111667 Feb 06, 2009 (130)
5 1000GENOMES ss107938272 Jan 22, 2009 (130)
6 1000GENOMES ss109937240 Jan 24, 2009 (130)
7 ILLUMINA-UK ss118438258 Feb 14, 2009 (130)
8 ENSEMBL ss131812125 Dec 01, 2009 (131)
9 ENSEMBL ss137752222 Dec 01, 2009 (131)
10 GMI ss154522338 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss162980843 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss163702733 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss165981017 Jul 04, 2010 (132)
14 BUSHMAN ss197885420 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss205453094 Jul 04, 2010 (132)
16 1000GENOMES ss218190384 Jul 14, 2010 (132)
17 1000GENOMES ss230395456 Jul 14, 2010 (132)
18 1000GENOMES ss238114971 Jul 15, 2010 (132)
19 BL ss252864098 May 09, 2011 (134)
20 GMI ss275680780 May 04, 2012 (137)
21 GMI ss283987372 Apr 25, 2013 (138)
22 SSMP ss647516123 Apr 25, 2013 (138)
23 EVA-GONL ss974769266 Aug 21, 2014 (142)
24 1000GENOMES ss1289338947 Aug 21, 2014 (142)
25 DDI ss1425684817 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1599378320 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1642372353 Apr 01, 2015 (144)
28 HAMMER_LAB ss1793705712 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1917960218 Feb 12, 2016 (147)
30 JJLAB ss2019498387 Sep 14, 2016 (149)
31 USC_VALOUEV ss2147484348 Dec 20, 2016 (150)
32 HUMAN_LONGEVITY ss2159368137 Dec 20, 2016 (150)
33 SYSTEMSBIOZJU ss2624264756 Nov 08, 2017 (151)
34 GRF ss2697374564 Nov 08, 2017 (151)
35 GNOMAD ss2750637270 Nov 08, 2017 (151)
36 SWEGEN ss2986148767 Nov 08, 2017 (151)
37 TOPMED ss3066396996 Nov 08, 2017 (151)
38 TOPMED ss3066396997 Nov 08, 2017 (151)
39 CSHL ss3343272489 Nov 08, 2017 (151)
40 URBANLAB ss3646581192 Oct 11, 2018 (152)
41 EVA_DECODE ss3685992005 Jul 12, 2019 (153)
42 ACPOP ss3726716282 Jul 12, 2019 (153)
43 EVA ss3745720880 Jul 12, 2019 (153)
44 PACBIO ss3783302112 Jul 12, 2019 (153)
45 PACBIO ss3788979983 Jul 12, 2019 (153)
46 PACBIO ss3793852519 Jul 12, 2019 (153)
47 KHV_HUMAN_GENOMES ss3798743476 Jul 12, 2019 (153)
48 EVA ss3825981438 Apr 25, 2020 (154)
49 EVA ss3836378380 Apr 25, 2020 (154)
50 EVA ss3841782381 Apr 25, 2020 (154)
51 SGDP_PRJ ss3847995035 Apr 25, 2020 (154)
52 KRGDB ss3892835422 Apr 25, 2020 (154)
53 KOGIC ss3943629292 Apr 25, 2020 (154)
54 TOPMED ss4436430003 Apr 25, 2021 (155)
55 TOMMO_GENOMICS ss5142051442 Apr 25, 2021 (155)
56 1000Genomes NC_000001.10 - 757734 Oct 11, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 757734 Oct 11, 2018 (152)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62268 (NC_000001.11:822353:C:A 1/138592)
Row 62269 (NC_000001.11:822353:C:T 101583/138494)

- Apr 25, 2021 (155)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 62268 (NC_000001.11:822353:C:A 1/138592)
Row 62269 (NC_000001.11:822353:C:T 101583/138494)

- Apr 25, 2021 (155)
60 Genome of the Netherlands Release 5 NC_000001.10 - 757734 Apr 25, 2020 (154)
61 KOREAN population from KRGDB NC_000001.10 - 757734 Apr 25, 2020 (154)
62 Korean Genome Project NC_000001.11 - 822354 Apr 25, 2020 (154)
63 Northern Sweden NC_000001.10 - 757734 Jul 12, 2019 (153)
64 Qatari NC_000001.10 - 757734 Apr 25, 2020 (154)
65 SGDP_PRJ NC_000001.10 - 757734 Apr 25, 2020 (154)
66 Siberian NC_000001.10 - 757734 Apr 25, 2020 (154)
67 8.3KJPN NC_000001.10 - 757734 Apr 25, 2021 (155)
68 TopMed NC_000001.11 - 822354 Apr 25, 2021 (155)
69 UK 10K study - Twins NC_000001.10 - 757734 Oct 11, 2018 (152)
70 ALFA NC_000001.11 - 822354 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
9355200219, ss3066396996 NC_000001.11:822353:C:A NC_000001.11:822353:C:A (self)
12816, ss3892835422 NC_000001.10:757733:C:G NC_000001.11:822353:C:G (self)
ss107938272, ss109937240, ss118438258, ss162980843, ss163702733, ss165981017, ss197885420, ss205453094, ss252864098, ss275680780, ss283987372 NC_000001.9:747596:C:T NC_000001.11:822353:C:T (self)
3661, 211, 339, 12816, 1147, 2148, 12015, 702, 20749, 211, ss218190384, ss230395456, ss238114971, ss647516123, ss974769266, ss1289338947, ss1425684817, ss1599378320, ss1642372353, ss1793705712, ss1917960218, ss2019498387, ss2147484348, ss2624264756, ss2697374564, ss2750637270, ss2986148767, ss3343272489, ss3726716282, ss3745720880, ss3783302112, ss3788979983, ss3793852519, ss3825981438, ss3836378380, ss3847995035, ss3892835422, ss5142051442 NC_000001.10:757733:C:T NC_000001.11:822353:C:T (self)
7293, 15135, 36338, 9355200219, ss2159368137, ss3066396997, ss3646581192, ss3685992005, ss3798743476, ss3841782381, ss3943629292, ss4436430003 NC_000001.11:822353:C:T NC_000001.11:822353:C:T (self)
ss6851735, ss97913198, ss105111667, ss131812125, ss137752222, ss154522338 NT_004350.19:236365:C:T NC_000001.11:822353:C:T (self)
ss19870963 NT_034471.3:236365:C:T NC_000001.11:822353: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 rs4951929

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