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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.

rs6810395

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:162489950 (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
T=0.014186 (3755/264690, TOPMED)
T=0.013757 (1929/140216, GnomAD)
T=0.00000 (0/28258, 14KJPN) (+ 14 more)
T=0.00725 (137/18890, ALFA)
T=0.00000 (0/16760, 8.3KJPN)
T=0.0147 (94/6404, 1000G_30x)
T=0.0138 (69/5008, 1000G)
T=0.0000 (0/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0003 (1/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.007 (4/558, SGDP_PRJ)
T=0.009 (2/216, Qatari)
T=0.000 (0/214, Vietnamese)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, GENOME_DK)
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 18890 T=0.00725 A=0.99275
European Sub 14286 T=0.00042 A=0.99958
African Sub 2946 T=0.0394 A=0.9606
African Others Sub 114 T=0.070 A=0.930
African American Sub 2832 T=0.0381 A=0.9619
Asian Sub 112 T=0.000 A=1.000
East Asian Sub 86 T=0.00 A=1.00
Other Asian Sub 26 T=0.00 A=1.00
Latin American 1 Sub 146 T=0.014 A=0.986
Latin American 2 Sub 610 T=0.005 A=0.995
South Asian Sub 98 T=0.00 A=1.00
Other Sub 692 T=0.014 A=0.986


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=0.014186 A=0.985814
gnomAD - Genomes Global Study-wide 140216 T=0.013757 A=0.986243
gnomAD - Genomes European Sub 75954 T=0.00011 A=0.99989
gnomAD - Genomes African Sub 42002 T=0.04352 A=0.95648
gnomAD - Genomes American Sub 13652 T=0.00579 A=0.99421
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.0000 A=1.0000
gnomAD - Genomes East Asian Sub 3132 T=0.0000 A=1.0000
gnomAD - Genomes Other Sub 2152 T=0.0065 A=0.9935
14KJPN JAPANESE Study-wide 28258 T=0.00000 A=1.00000
Allele Frequency Aggregator Total Global 18890 T=0.00725 A=0.99275
Allele Frequency Aggregator European Sub 14286 T=0.00042 A=0.99958
Allele Frequency Aggregator African Sub 2946 T=0.0394 A=0.9606
Allele Frequency Aggregator Other Sub 692 T=0.014 A=0.986
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.005 A=0.995
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.014 A=0.986
Allele Frequency Aggregator Asian Sub 112 T=0.000 A=1.000
Allele Frequency Aggregator South Asian Sub 98 T=0.00 A=1.00
8.3KJPN JAPANESE Study-wide 16760 T=0.00000 A=1.00000
1000Genomes_30x Global Study-wide 6404 T=0.0147 A=0.9853
1000Genomes_30x African Sub 1786 T=0.0498 A=0.9502
1000Genomes_30x Europe Sub 1266 T=0.0000 A=1.0000
1000Genomes_30x South Asian Sub 1202 T=0.0000 A=1.0000
1000Genomes_30x East Asian Sub 1170 T=0.0000 A=1.0000
1000Genomes_30x American Sub 980 T=0.005 A=0.995
1000Genomes Global Study-wide 5008 T=0.0138 A=0.9862
1000Genomes African Sub 1322 T=0.0492 A=0.9508
1000Genomes East Asian Sub 1008 T=0.0000 A=1.0000
1000Genomes Europe Sub 1006 T=0.0000 A=1.0000
1000Genomes South Asian Sub 978 T=0.000 A=1.000
1000Genomes American Sub 694 T=0.006 A=0.994
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0000 A=1.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0000 A=1.0000
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.0003 A=0.9997, C=0.0000, G=0.0000
Korean Genome Project KOREAN Study-wide 1832 T=0.0000 A=1.0000
Northern Sweden ACPOP Study-wide 600 T=0.000 A=1.000
SGDP_PRJ Global Study-wide 558 T=0.007 A=0.993
Qatari Global Study-wide 216 T=0.009 A=0.991
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.000 A=1.000
Siberian Global Study-wide 56 T=0.00 A=1.00
The Danish reference pan genome Danish Study-wide 40 T=0.00 A=1.00
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 4 NC_000004.12:g.162489950T>A
GRCh38.p14 chr 4 NC_000004.12:g.162489950T>C
GRCh38.p14 chr 4 NC_000004.12:g.162489950T>G
GRCh37.p13 chr 4 NC_000004.11:g.163411102T>A
GRCh37.p13 chr 4 NC_000004.11:g.163411102T>C
GRCh37.p13 chr 4 NC_000004.11:g.163411102T>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 T= A C G
GRCh38.p14 chr 4 NC_000004.12:g.162489950= NC_000004.12:g.162489950T>A NC_000004.12:g.162489950T>C NC_000004.12:g.162489950T>G
GRCh37.p13 chr 4 NC_000004.11:g.163411102= NC_000004.11:g.163411102T>A NC_000004.11:g.163411102T>C NC_000004.11:g.163411102T>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#.

71 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10100692 Jul 11, 2003 (116)
2 WI_SSAHASNP ss14610553 Dec 05, 2003 (126)
3 CSHL-HAPMAP ss17020033 Feb 27, 2004 (120)
4 SSAHASNP ss22216630 Apr 05, 2004 (121)
5 HGSV ss78640583 Dec 07, 2007 (129)
6 HGSV ss81627898 Dec 15, 2007 (130)
7 HGSV ss84562743 Dec 15, 2007 (130)
8 BCMHGSC_JDW ss92861638 Mar 24, 2008 (129)
9 HUMANGENOME_JCVI ss98882314 Feb 05, 2009 (130)
10 BGI ss105880815 Feb 05, 2009 (130)
11 ILLUMINA-UK ss117270025 Dec 01, 2009 (131)
12 ENSEMBL ss135064225 Dec 01, 2009 (131)
13 ENSEMBL ss142469666 Dec 01, 2009 (131)
14 GMI ss154522693 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss162734426 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss164913806 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss167373948 Jul 04, 2010 (132)
18 BUSHMAN ss199453324 Jul 04, 2010 (132)
19 1000GENOMES ss232690601 Jul 14, 2010 (132)
20 BL ss253690771 May 09, 2011 (134)
21 GMI ss278023860 May 04, 2012 (137)
22 GMI ss285049411 Apr 25, 2013 (138)
23 PJP ss293241944 May 09, 2011 (134)
24 TISHKOFF ss557997992 Apr 25, 2013 (138)
25 SSMP ss651821606 Apr 25, 2013 (138)
26 JMKIDD_LAB ss1072140770 Aug 21, 2014 (142)
27 1000GENOMES ss1312729954 Aug 21, 2014 (142)
28 DDI ss1430127420 Apr 01, 2015 (144)
29 EVA_GENOME_DK ss1580872731 Apr 01, 2015 (144)
30 EVA_UK10K_ALSPAC ss1611655740 Apr 01, 2015 (144)
31 EVA_UK10K_TWINSUK ss1654649773 Apr 01, 2015 (144)
32 HAMMER_LAB ss1802511821 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1924161997 Feb 12, 2016 (147)
34 GENOMED ss1969928397 Jul 19, 2016 (147)
35 JJLAB ss2022669638 Sep 14, 2016 (149)
36 USC_VALOUEV ss2150801597 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2269031014 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2625829372 Nov 08, 2017 (151)
39 GRF ss2706303272 Nov 08, 2017 (151)
40 GNOMAD ss2817879751 Nov 08, 2017 (151)
41 SWEGEN ss2995925050 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3025113456 Nov 08, 2017 (151)
43 CSHL ss3346069792 Nov 08, 2017 (151)
44 URBANLAB ss3647903064 Oct 12, 2018 (152)
45 EVA_DECODE ss3713506830 Jul 13, 2019 (153)
46 ACPOP ss3731808001 Jul 13, 2019 (153)
47 EVA ss3762689677 Jul 13, 2019 (153)
48 PACBIO ss3784927192 Jul 13, 2019 (153)
49 PACBIO ss3790354014 Jul 13, 2019 (153)
50 PACBIO ss3795229631 Jul 13, 2019 (153)
51 KHV_HUMAN_GENOMES ss3805849640 Jul 13, 2019 (153)
52 EVA ss3828926290 Apr 26, 2020 (154)
53 EVA ss3837914552 Apr 26, 2020 (154)
54 EVA ss3843355480 Apr 26, 2020 (154)
55 SGDP_PRJ ss3860535792 Apr 26, 2020 (154)
56 KRGDB ss3906897580 Apr 26, 2020 (154)
57 KOGIC ss3955547813 Apr 26, 2020 (154)
58 TOPMED ss4639994066 Apr 26, 2021 (155)
59 TOMMO_GENOMICS ss5169038075 Apr 26, 2021 (155)
60 1000G_HIGH_COVERAGE ss5261822182 Oct 13, 2022 (156)
61 EVA ss5353760749 Oct 13, 2022 (156)
62 HUGCELL_USP ss5460293510 Oct 13, 2022 (156)
63 1000G_HIGH_COVERAGE ss5544351541 Oct 13, 2022 (156)
64 SANFORD_IMAGENETICS ss5636561489 Oct 13, 2022 (156)
65 TOMMO_GENOMICS ss5704314995 Oct 13, 2022 (156)
66 YY_MCH ss5805737103 Oct 13, 2022 (156)
67 EVA ss5845029733 Oct 13, 2022 (156)
68 EVA ss5854541246 Oct 13, 2022 (156)
69 EVA ss5866417894 Oct 13, 2022 (156)
70 EVA ss5964970485 Oct 13, 2022 (156)
71 EVA ss5980260308 Oct 13, 2022 (156)
72 1000Genomes NC_000004.11 - 163411102 Oct 12, 2018 (152)
73 1000Genomes_30x NC_000004.12 - 162489950 Oct 13, 2022 (156)
74 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 163411102 Oct 12, 2018 (152)
75 The Danish reference pan genome NC_000004.11 - 163411102 Apr 26, 2020 (154)
76 gnomAD - Genomes NC_000004.12 - 162489950 Apr 26, 2021 (155)
77 KOREAN population from KRGDB NC_000004.11 - 163411102 Apr 26, 2020 (154)
78 Korean Genome Project NC_000004.12 - 162489950 Apr 26, 2020 (154)
79 Northern Sweden NC_000004.11 - 163411102 Jul 13, 2019 (153)
80 Qatari NC_000004.11 - 163411102 Apr 26, 2020 (154)
81 SGDP_PRJ NC_000004.11 - 163411102 Apr 26, 2020 (154)
82 Siberian NC_000004.11 - 163411102 Apr 26, 2020 (154)
83 8.3KJPN NC_000004.11 - 163411102 Apr 26, 2021 (155)
84 14KJPN NC_000004.12 - 162489950 Oct 13, 2022 (156)
85 TopMed NC_000004.12 - 162489950 Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000004.11 - 163411102 Oct 12, 2018 (152)
87 A Vietnamese Genetic Variation Database NC_000004.11 - 163411102 Jul 13, 2019 (153)
88 ALFA NC_000004.12 - 162489950 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)
rs10389750 Mar 11, 2006 (126)
rs59019346 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78640583, ss81627898, ss84562743 NC_000004.9:163768706:T:A NC_000004.12:162489949:T:A (self)
ss92861638, ss117270025, ss162734426, ss164913806, ss167373948, ss199453324, ss253690771, ss278023860, ss285049411, ss293241944 NC_000004.10:163630551:T:A NC_000004.12:162489949:T:A (self)
24239904, 13483419, 7037670, 14074974, 5092866, 6203927, 12552772, 3317951, 27007382, 13483419, 2977135, ss232690601, ss557997992, ss651821606, ss1072140770, ss1312729954, ss1430127420, ss1580872731, ss1611655740, ss1654649773, ss1802511821, ss1924161997, ss1969928397, ss2022669638, ss2150801597, ss2625829372, ss2706303272, ss2817879751, ss2995925050, ss3346069792, ss3731808001, ss3762689677, ss3784927192, ss3790354014, ss3795229631, ss3828926290, ss3837914552, ss3860535792, ss3906897580, ss5169038075, ss5353760749, ss5636561489, ss5845029733, ss5964970485, ss5980260308 NC_000004.11:163411101:T:A NC_000004.12:162489949:T:A (self)
31877476, 171673056, 11925814, 38152099, 477371622, 2054362896, ss2269031014, ss3025113456, ss3647903064, ss3713506830, ss3805849640, ss3843355480, ss3955547813, ss4639994066, ss5261822182, ss5460293510, ss5544351541, ss5704314995, ss5805737103, ss5854541246, ss5866417894 NC_000004.12:162489949:T:A NC_000004.12:162489949:T:A (self)
ss98882314, ss105880815, ss135064225, ss142469666, ss154522693 NT_016354.19:87958822:T:A NC_000004.12:162489949:T:A (self)
ss10100692 NT_016606.15:24930766:T:A NC_000004.12:162489949:T:A (self)
ss14610553, ss17020033, ss22216630 NT_016606.16:24959157:T:A NC_000004.12:162489949:T:A (self)
14074974, ss3906897580 NC_000004.11:163411101:T:C NC_000004.12:162489949:T:C (self)
14074974, ss3906897580 NC_000004.11:163411101:T:G NC_000004.12:162489949: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 rs6810395

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