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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.

rs10160205

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6279377 (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
G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.382209 (101167/264690, TOPMED)
G=0.371549 (52005/139968, GnomAD)
G=0.34451 (6166/17898, ALFA) (+ 14 more)
C=0.32977 (5527/16760, 8.3KJPN)
G=0.4980 (2494/5008, 1000G)
G=0.3223 (1444/4480, Estonian)
G=0.2846 (1097/3854, ALSPAC)
G=0.2856 (1059/3708, TWINSUK)
C=0.3215 (942/2930, KOREAN)
G=0.276 (275/998, GoNL)
G=0.298 (179/600, NorthernSweden)
G=0.310 (131/422, SGDP_PRJ)
G=0.494 (162/328, HapMap)
G=0.231 (50/216, Qatari)
C=0.305 (64/210, Vietnamese)
G=0.28 (11/40, GENOME_DK)
G=0.28 (11/40, 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 10 NC_000010.11:g.6279377G>C
GRCh38.p13 chr 10 NC_000010.11:g.6279377G>T
GRCh37.p13 chr 10 NC_000010.10:g.6321340G>C
GRCh37.p13 chr 10 NC_000010.10:g.6321340G>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 17898 G=0.34451 C=0.65549, T=0.00000
European Sub 13704 G=0.30612 C=0.69388, T=0.00000
African Sub 2536 G=0.4830 C=0.5170, T=0.0000
African Others Sub 92 G=0.55 C=0.45, T=0.00
African American Sub 2444 G=0.4804 C=0.5196, T=0.0000
Asian Sub 112 G=0.750 C=0.250, T=0.000
East Asian Sub 86 G=0.78 C=0.22, T=0.00
Other Asian Sub 26 G=0.65 C=0.35, T=0.00
Latin American 1 Sub 146 G=0.438 C=0.562, T=0.000
Latin American 2 Sub 610 G=0.466 C=0.534, T=0.000
South Asian Sub 98 G=0.52 C=0.48, T=0.00
Other Sub 692 G=0.380 C=0.620, T=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 G=0.382209 C=0.617791
gnomAD - Genomes Global Study-wide 139968 G=0.371549 C=0.628451
gnomAD - Genomes European Sub 75834 G=0.30544 C=0.69456
gnomAD - Genomes African Sub 41904 G=0.45442 C=0.54558
gnomAD - Genomes American Sub 13642 G=0.43967 C=0.56033
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.2547 C=0.7453
gnomAD - Genomes East Asian Sub 3124 G=0.6924 C=0.3076
gnomAD - Genomes Other Sub 2142 G=0.3702 C=0.6298
Allele Frequency Aggregator Total Global 17898 G=0.34451 C=0.65549, T=0.00000
Allele Frequency Aggregator European Sub 13704 G=0.30612 C=0.69388, T=0.00000
Allele Frequency Aggregator African Sub 2536 G=0.4830 C=0.5170, T=0.0000
Allele Frequency Aggregator Other Sub 692 G=0.380 C=0.620, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.466 C=0.534, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.438 C=0.562, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.750 C=0.250, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.52 C=0.48, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.67023 C=0.32977
1000Genomes Global Study-wide 5008 G=0.4980 C=0.5020
1000Genomes African Sub 1322 G=0.4962 C=0.5038
1000Genomes East Asian Sub 1008 G=0.7103 C=0.2897
1000Genomes Europe Sub 1006 G=0.3022 C=0.6978
1000Genomes South Asian Sub 978 G=0.474 C=0.526
1000Genomes American Sub 694 G=0.510 C=0.490
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3223 C=0.6777
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2846 C=0.7154
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.2856 C=0.7144
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6785 C=0.3215
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.276 C=0.724
Northern Sweden ACPOP Study-wide 600 G=0.298 C=0.702
SGDP_PRJ Global Study-wide 422 G=0.310 C=0.690
HapMap Global Study-wide 328 G=0.494 C=0.506
HapMap African Sub 120 G=0.525 C=0.475
HapMap American Sub 120 G=0.350 C=0.650
HapMap Asian Sub 88 G=0.65 C=0.35
Qatari Global Study-wide 216 G=0.231 C=0.769
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.695 C=0.305
The Danish reference pan genome Danish Study-wide 40 G=0.28 C=0.72
Siberian Global Study-wide 40 G=0.28 C=0.72
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 G= C T
GRCh38.p13 chr 10 NC_000010.11:g.6279377= NC_000010.11:g.6279377G>C NC_000010.11:g.6279377G>T
GRCh37.p13 chr 10 NC_000010.10:g.6321340= NC_000010.10:g.6321340G>C NC_000010.10:g.6321340G>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#.

70 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 WUGSC_SSAHASNP ss14021355 Dec 05, 2003 (119)
2 SC_SNP ss15890795 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss16510107 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss17411385 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss19189699 Feb 27, 2004 (120)
6 SSAHASNP ss20730338 Apr 05, 2004 (121)
7 PERLEGEN ss23557432 Sep 20, 2004 (123)
8 ABI ss38639286 Mar 14, 2006 (126)
9 PERLEGEN ss69068746 May 18, 2007 (127)
10 HGSV ss77382728 Dec 07, 2007 (129)
11 HGSV ss81391743 Dec 14, 2007 (130)
12 BCMHGSC_JDW ss88080972 Mar 23, 2008 (129)
13 HUMANGENOME_JCVI ss97618047 Feb 03, 2009 (130)
14 BGI ss102850394 Dec 01, 2009 (131)
15 1000GENOMES ss115305481 Jan 25, 2009 (130)
16 ILLUMINA-UK ss119003979 Feb 15, 2009 (130)
17 ENSEMBL ss131914117 Dec 01, 2009 (131)
18 GMI ss154522862 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss167743531 Jul 04, 2010 (132)
20 COMPLETE_GENOMICS ss168979034 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss170369525 Jul 04, 2010 (132)
22 BUSHMAN ss201097575 Jul 04, 2010 (132)
23 1000GENOMES ss224544584 Jul 14, 2010 (132)
24 1000GENOMES ss235038114 Jul 15, 2010 (132)
25 1000GENOMES ss241773929 Jul 15, 2010 (132)
26 BL ss254025890 May 09, 2011 (134)
27 GMI ss280464792 May 04, 2012 (137)
28 GMI ss286122495 Apr 25, 2013 (138)
29 PJP ss290900182 May 09, 2011 (134)
30 TISHKOFF ss561745462 Apr 25, 2013 (138)
31 SSMP ss656251692 Apr 25, 2013 (138)
32 EVA-GONL ss987157393 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1076731775 Aug 21, 2014 (142)
34 1000GENOMES ss1336130428 Aug 21, 2014 (142)
35 DDI ss1426208871 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1574889287 Apr 01, 2015 (144)
37 EVA_DECODE ss1596805367 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1623911937 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1666905970 Apr 01, 2015 (144)
40 HAMMER_LAB ss1806238348 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1930478326 Feb 12, 2016 (147)
42 GENOMED ss1967049579 Jul 19, 2016 (147)
43 JJLAB ss2025962304 Sep 14, 2016 (149)
44 USC_VALOUEV ss2154204335 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2172359125 Dec 20, 2016 (150)
46 TOPMED ss2335068197 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2627450061 Nov 08, 2017 (151)
48 GRF ss2698428259 Nov 08, 2017 (151)
49 GNOMAD ss2885106022 Nov 08, 2017 (151)
50 SWEGEN ss3005875748 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3026764667 Nov 08, 2017 (151)
52 TOPMED ss3110665875 Nov 08, 2017 (151)
53 TOPMED ss3110665876 Nov 08, 2017 (151)
54 CSHL ss3348941976 Nov 08, 2017 (151)
55 URBANLAB ss3649280485 Oct 12, 2018 (152)
56 EGCUT_WGS ss3673402874 Jul 13, 2019 (153)
57 EVA_DECODE ss3689206707 Jul 13, 2019 (153)
58 ACPOP ss3737026998 Jul 13, 2019 (153)
59 EVA ss3747699780 Jul 13, 2019 (153)
60 PACBIO ss3786570234 Jul 13, 2019 (153)
61 PACBIO ss3791764119 Jul 13, 2019 (153)
62 PACBIO ss3796645899 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3813062742 Jul 13, 2019 (153)
64 EVA ss3831947073 Apr 26, 2020 (154)
65 EVA ss3839504382 Apr 26, 2020 (154)
66 EVA ss3844970366 Apr 26, 2020 (154)
67 SGDP_PRJ ss3873453645 Apr 26, 2020 (154)
68 KRGDB ss3921389138 Apr 26, 2020 (154)
69 TOPMED ss4841245395 Apr 26, 2021 (155)
70 TOMMO_GENOMICS ss5196097201 Apr 26, 2021 (155)
71 1000Genomes NC_000010.10 - 6321340 Oct 12, 2018 (152)
72 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6321340 Oct 12, 2018 (152)
73 Genetic variation in the Estonian population NC_000010.10 - 6321340 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000010.10 - 6321340 Apr 26, 2020 (154)
75 gnomAD - Genomes NC_000010.11 - 6279377 Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000010.10 - 6321340 Apr 26, 2020 (154)
77 HapMap NC_000010.11 - 6279377 Apr 26, 2020 (154)
78 KOREAN population from KRGDB NC_000010.10 - 6321340 Apr 26, 2020 (154)
79 Northern Sweden NC_000010.10 - 6321340 Jul 13, 2019 (153)
80 Qatari NC_000010.10 - 6321340 Apr 26, 2020 (154)
81 SGDP_PRJ NC_000010.10 - 6321340 Apr 26, 2020 (154)
82 Siberian NC_000010.10 - 6321340 Apr 26, 2020 (154)
83 8.3KJPN NC_000010.10 - 6321340 Apr 26, 2021 (155)
84 TopMed NC_000010.11 - 6279377 Apr 26, 2021 (155)
85 UK 10K study - Twins NC_000010.10 - 6321340 Oct 12, 2018 (152)
86 A Vietnamese Genetic Variation Database NC_000010.10 - 6321340 Jul 13, 2019 (153)
87 ALFA NC_000010.11 - 6279377 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)
rs57019219 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77382728, ss81391743 NC_000010.8:6361345:G:C NC_000010.11:6279376:G:C (self)
ss88080972, ss115305481, ss119003979, ss167743531, ss168979034, ss170369525, ss201097575, ss254025890, ss280464792, ss286122495, ss290900182, ss1596805367 NC_000010.9:6361345:G:C NC_000010.11:6279376:G:C (self)
48471756, 26932366, 19141122, 2014490, 12012277, 28566532, 10311863, 12520256, 25470625, 6720689, 54066508, 26932366, 5978625, ss224544584, ss235038114, ss241773929, ss561745462, ss656251692, ss987157393, ss1076731775, ss1336130428, ss1426208871, ss1574889287, ss1623911937, ss1666905970, ss1806238348, ss1930478326, ss1967049579, ss2025962304, ss2154204335, ss2335068197, ss2627450061, ss2698428259, ss2885106022, ss3005875748, ss3348941976, ss3673402874, ss3737026998, ss3747699780, ss3786570234, ss3791764119, ss3796645899, ss3831947073, ss3839504382, ss3873453645, ss3921389138, ss5196097201 NC_000010.10:6321339:G:C NC_000010.11:6279376:G:C (self)
342417874, 330088, 35685310, 56791050, 1316677216, ss2172359125, ss3026764667, ss3110665875, ss3649280485, ss3689206707, ss3813062742, ss3844970366, ss4841245395 NC_000010.11:6279376:G:C NC_000010.11:6279376:G:C (self)
ss23557432, ss38639286, ss69068746, ss97618047, ss102850394, ss131914117, ss154522862 NT_008705.16:6261339:G:C NC_000010.11:6279376:G:C (self)
ss14021355, ss15890795, ss16510107, ss17411385, ss19189699, ss20730338 NT_077569.2:684235:G:C NC_000010.11:6279376:G:C (self)
1316677216, ss3110665876 NC_000010.11:6279376:G:T NC_000010.11:6279376:G: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 rs10160205

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