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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.

rs2210807

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:71804038 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.163705 (43331/264690, TOPMED)
A=0.07400 (2091/28258, 14KJPN)
A=0.07548 (1265/16760, 8.3KJPN) (+ 14 more)
A=0.07984 (1253/15694, ALFA)
A=0.1301 (833/6404, 1000G_30x)
A=0.1310 (656/5008, 1000G)
A=0.1397 (626/4480, Estonian)
A=0.1668 (643/3854, ALSPAC)
A=0.1715 (636/3708, TWINSUK)
A=0.0438 (128/2922, KOREAN)
A=0.166 (166/998, GoNL)
A=0.160 (96/600, NorthernSweden)
A=0.213 (46/216, Qatari)
T=0.475 (57/120, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
T=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 15694 T=0.92016 A=0.07984, C=0.00000
European Sub 12204 T=0.90978 A=0.09022, C=0.00000
African Sub 2170 T=0.9502 A=0.0498, C=0.0000
African Others Sub 88 T=0.97 A=0.03, C=0.00
African American Sub 2082 T=0.9496 A=0.0504, C=0.0000
Asian Sub 108 T=0.991 A=0.009, C=0.000
East Asian Sub 82 T=1.00 A=0.00, C=0.00
Other Asian Sub 26 T=0.96 A=0.04, C=0.00
Latin American 1 Sub 96 T=1.00 A=0.00, C=0.00
Latin American 2 Sub 498 T=1.000 A=0.000, C=0.000
South Asian Sub 84 T=0.99 A=0.01, C=0.00
Other Sub 534 T=0.921 A=0.079, C=0.000


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=0.836295 A=0.163705
14KJPN JAPANESE Study-wide 28258 T=0.92600 A=0.07400
8.3KJPN JAPANESE Study-wide 16760 T=0.92452 A=0.07548
Allele Frequency Aggregator Total Global 15694 T=0.92016 A=0.07984, C=0.00000
Allele Frequency Aggregator European Sub 12204 T=0.90978 A=0.09022, C=0.00000
Allele Frequency Aggregator African Sub 2170 T=0.9502 A=0.0498, C=0.0000
Allele Frequency Aggregator Other Sub 534 T=0.921 A=0.079, C=0.000
Allele Frequency Aggregator Latin American 2 Sub 498 T=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 108 T=0.991 A=0.009, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 96 T=1.00 A=0.00, C=0.00
Allele Frequency Aggregator South Asian Sub 84 T=0.99 A=0.01, C=0.00
1000Genomes_30x Global Study-wide 6404 T=0.8699 A=0.1301
1000Genomes_30x African Sub 1786 T=0.8119 A=0.1881
1000Genomes_30x Europe Sub 1266 T=0.8570 A=0.1430
1000Genomes_30x South Asian Sub 1202 T=0.8985 A=0.1015
1000Genomes_30x East Asian Sub 1170 T=0.9308 A=0.0692
1000Genomes_30x American Sub 980 T=0.885 A=0.115
1000Genomes Global Study-wide 5008 T=0.8690 A=0.1310
1000Genomes African Sub 1322 T=0.7995 A=0.2005
1000Genomes East Asian Sub 1008 T=0.9375 A=0.0625
1000Genomes Europe Sub 1006 T=0.8549 A=0.1451
1000Genomes South Asian Sub 978 T=0.896 A=0.104
1000Genomes American Sub 694 T=0.885 A=0.115
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8603 A=0.1397
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8332 A=0.1668
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8285 A=0.1715
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9562 A=0.0438
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.834 A=0.166
Northern Sweden ACPOP Study-wide 600 T=0.840 A=0.160
Qatari Global Study-wide 216 T=0.787 A=0.213
SGDP_PRJ Global Study-wide 120 T=0.475 A=0.525
The Danish reference pan genome Danish Study-wide 40 T=0.85 A=0.15
Siberian Global Study-wide 6 T=0.5 A=0.5
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 6 NC_000006.12:g.71804038T>A
GRCh38.p14 chr 6 NC_000006.12:g.71804038T>C
GRCh37.p13 chr 6 NC_000006.11:g.72513741T>A
GRCh37.p13 chr 6 NC_000006.11:g.72513741T>C
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
GRCh38.p14 chr 6 NC_000006.12:g.71804038= NC_000006.12:g.71804038T>A NC_000006.12:g.71804038T>C
GRCh37.p13 chr 6 NC_000006.11:g.72513741= NC_000006.11:g.72513741T>A NC_000006.11:g.72513741T>C
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#.

53 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3152727 Jun 15, 2001 (96)
2 SC_JCM ss6288744 Feb 20, 2003 (113)
3 BCM_SSAHASNP ss10290098 Jul 11, 2003 (116)
4 SC_SNP ss12779072 Dec 05, 2003 (120)
5 ABI ss42835299 Mar 14, 2006 (126)
6 ILLUMINA-UK ss116539370 Feb 14, 2009 (130)
7 COMPLETE_GENOMICS ss162493430 Jul 04, 2010 (132)
8 BCM-HGSC-SUB ss207801753 Jul 04, 2010 (132)
9 1000GENOMES ss222465284 Jul 14, 2010 (132)
10 1000GENOMES ss233530249 Jul 15, 2010 (132)
11 GMI ss278862189 May 04, 2012 (137)
12 TISHKOFF ss559285761 Apr 25, 2013 (138)
13 SSMP ss653242362 Apr 25, 2013 (138)
14 EVA-GONL ss983081324 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1073722398 Aug 21, 2014 (142)
16 1000GENOMES ss1320688989 Aug 21, 2014 (142)
17 DDI ss1430777142 Apr 01, 2015 (144)
18 EVA_GENOME_DK ss1581733287 Apr 01, 2015 (144)
19 EVA_DECODE ss1592623683 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1615858296 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1658852329 Apr 01, 2015 (144)
22 HAMMER_LAB ss1804498098 Sep 08, 2015 (146)
23 WEILL_CORNELL_DGM ss1926337768 Feb 12, 2016 (147)
24 JJLAB ss2023811088 Sep 14, 2016 (149)
25 USC_VALOUEV ss2152002861 Dec 20, 2016 (150)
26 HUMAN_LONGEVITY ss2285038609 Dec 20, 2016 (150)
27 GRF ss2707611711 Nov 08, 2017 (151)
28 GNOMAD ss2840555599 Nov 08, 2017 (151)
29 SWEGEN ss2999308719 Nov 08, 2017 (151)
30 BIOINF_KMB_FNS_UNIBA ss3025698857 Nov 08, 2017 (151)
31 CSHL ss3347044126 Nov 08, 2017 (151)
32 EGCUT_WGS ss3667178007 Jul 13, 2019 (153)
33 EVA_DECODE ss3717491719 Jul 13, 2019 (153)
34 ACPOP ss3733632395 Jul 13, 2019 (153)
35 EVA ss3765187822 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3808336259 Jul 13, 2019 (153)
37 EVA ss3829998018 Apr 26, 2020 (154)
38 SGDP_PRJ ss3864875068 Apr 26, 2020 (154)
39 KRGDB ss3911741867 Apr 26, 2020 (154)
40 TOPMED ss4707881801 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5178132912 Apr 26, 2021 (155)
42 1000G_HIGH_COVERAGE ss5268949297 Oct 17, 2022 (156)
43 EVA ss5366499382 Oct 17, 2022 (156)
44 HUGCELL_USP ss5466543826 Oct 17, 2022 (156)
45 EVA ss5508554107 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5555138749 Oct 17, 2022 (156)
47 SANFORD_IMAGENETICS ss5640688067 Oct 17, 2022 (156)
48 TOMMO_GENOMICS ss5716501343 Oct 17, 2022 (156)
49 YY_MCH ss5807604765 Oct 17, 2022 (156)
50 EVA ss5842448225 Oct 17, 2022 (156)
51 EVA ss5855413382 Oct 17, 2022 (156)
52 EVA ss5884363506 Oct 17, 2022 (156)
53 EVA ss5969182691 Oct 17, 2022 (156)
54 1000Genomes NC_000006.11 - 72513741 Oct 12, 2018 (152)
55 1000Genomes_30x NC_000006.12 - 71804038 Oct 17, 2022 (156)
56 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 72513741 Oct 12, 2018 (152)
57 Genetic variation in the Estonian population NC_000006.11 - 72513741 Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000006.11 - 72513741 Apr 26, 2020 (154)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 229362503 (NC_000006.12:71804037:T:A 23328/140050)
Row 229362504 (NC_000006.12:71804037:T:C 1/140100)

- Apr 26, 2021 (155)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 229362503 (NC_000006.12:71804037:T:A 23328/140050)
Row 229362504 (NC_000006.12:71804037:T:C 1/140100)

- Apr 26, 2021 (155)
61 Genome of the Netherlands Release 5 NC_000006.11 - 72513741 Apr 26, 2020 (154)
62 KOREAN population from KRGDB NC_000006.11 - 72513741 Apr 26, 2020 (154)
63 Northern Sweden NC_000006.11 - 72513741 Jul 13, 2019 (153)
64 Qatari NC_000006.11 - 72513741 Apr 26, 2020 (154)
65 SGDP_PRJ NC_000006.11 - 72513741 Apr 26, 2020 (154)
66 Siberian NC_000006.11 - 72513741 Apr 26, 2020 (154)
67 8.3KJPN NC_000006.11 - 72513741 Apr 26, 2021 (155)
68 14KJPN NC_000006.12 - 71804038 Oct 17, 2022 (156)
69 TopMed NC_000006.12 - 71804038 Apr 26, 2021 (155)
70 UK 10K study - Twins NC_000006.11 - 72513741 Oct 12, 2018 (152)
71 ALFA NC_000006.12 - 71804038 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)
rs4632861 Mar 31, 2003 (113)
rs9341343 Feb 27, 2004 (120)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss116539370, ss162493430, ss207801753, ss278862189, ss1592623683 NC_000006.10:72570461:T:A NC_000006.12:71804037:T:A (self)
32497446, 18106276, 12916255, 7898226, 8066657, 18919261, 6917260, 8379698, 16892048, 4519215, 36102219, 18106276, ss222465284, ss233530249, ss559285761, ss653242362, ss983081324, ss1073722398, ss1320688989, ss1430777142, ss1581733287, ss1615858296, ss1658852329, ss1804498098, ss1926337768, ss2023811088, ss2152002861, ss2707611711, ss2840555599, ss2999308719, ss3347044126, ss3667178007, ss3733632395, ss3765187822, ss3829998018, ss3864875068, ss3911741867, ss5178132912, ss5366499382, ss5508554107, ss5640688067, ss5842448225, ss5969182691 NC_000006.11:72513740:T:A NC_000006.12:71804037:T:A (self)
42664684, 50338447, 545259359, 945740208, ss2285038609, ss3025698857, ss3717491719, ss3808336259, ss4707881801, ss5268949297, ss5466543826, ss5555138749, ss5716501343, ss5807604765, ss5855413382, ss5884363506 NC_000006.12:71804037:T:A NC_000006.12:71804037:T:A (self)
ss10290098, ss12779072 NT_007299.12:10333913:T:A NC_000006.12:71804037:T:A (self)
ss3152727, ss6288744, ss42835299 NT_007299.13:10633574:T:A NC_000006.12:71804037:T:A (self)
945740208 NC_000006.12:71804037:T:C NC_000006.12:71804037:T:C (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 rs2210807

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