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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.

rs7920875

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60753840 (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>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.065359 (17300/264690, TOPMED)
G=0.063192 (8715/137912, GnomAD)
G=0.07247 (5703/78698, PAGE_STUDY) (+ 16 more)
G=0.05915 (1093/18478, ALFA)
G=0.00000 (0/16760, 8.3KJPN)
G=0.0581 (291/5008, 1000G)
G=0.0431 (193/4480, Estonian)
G=0.0457 (176/3854, ALSPAC)
G=0.0445 (165/3708, TWINSUK)
G=0.0003 (1/2930, KOREAN)
G=0.0005 (1/1832, Korea1K)
G=0.040 (40/998, GoNL)
G=0.032 (19/600, NorthernSweden)
G=0.029 (16/552, SGDP_PRJ)
G=0.070 (23/328, HapMap)
G=0.042 (9/216, Qatari)
G=0.000 (0/216, Vietnamese)
G=0.07 (4/56, Siberian)
G=0.03 (1/40, 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.60753840G>A
GRCh38.p13 chr 10 NC_000010.11:g.60753840G>C
GRCh38.p13 chr 10 NC_000010.11:g.60753840G>T
GRCh37.p13 chr 10 NC_000010.10:g.62513598G>A
GRCh37.p13 chr 10 NC_000010.10:g.62513598G>C
GRCh37.p13 chr 10 NC_000010.10:g.62513598G>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 18478 G=0.05915 A=0.94085, C=0.00000
European Sub 13710 G=0.04588 A=0.95412, C=0.00000
African Sub 2866 G=0.1277 A=0.8723, C=0.0000
African Others Sub 92 G=0.21 A=0.79, C=0.00
African American Sub 2774 G=0.1251 A=0.8749, C=0.0000
Asian Sub 146 G=0.000 A=1.000, C=0.000
East Asian Sub 120 G=0.000 A=1.000, C=0.000
Other Asian Sub 26 G=0.00 A=1.00, C=0.00
Latin American 1 Sub 146 G=0.075 A=0.925, C=0.000
Latin American 2 Sub 610 G=0.034 A=0.966, C=0.000
South Asian Sub 104 G=0.048 A=0.952, C=0.000
Other Sub 896 G=0.068 A=0.932, 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 G=0.065359 A=0.934641
gnomAD - Genomes Global Study-wide 137912 G=0.063192 A=0.936808
gnomAD - Genomes European Sub 75362 G=0.03759 A=0.96241
gnomAD - Genomes African Sub 40836 G=0.12592 A=0.87408
gnomAD - Genomes American Sub 13216 G=0.03677 A=0.96323
gnomAD - Genomes Ashkenazi Jewish Sub 3312 G=0.0438 A=0.9562
gnomAD - Genomes East Asian Sub 3108 G=0.0003 A=0.9997
gnomAD - Genomes Other Sub 2078 G=0.0520 A=0.9480
The PAGE Study Global Study-wide 78698 G=0.07247 A=0.92753
The PAGE Study AfricanAmerican Sub 32516 G=0.12680 A=0.87320
The PAGE Study Mexican Sub 10810 G=0.02747 A=0.97253
The PAGE Study Asian Sub 8316 G=0.0007 A=0.9993
The PAGE Study PuertoRican Sub 7918 G=0.0559 A=0.9441
The PAGE Study NativeHawaiian Sub 4534 G=0.0124 A=0.9876
The PAGE Study Cuban Sub 4230 G=0.0541 A=0.9459
The PAGE Study Dominican Sub 3828 G=0.0700 A=0.9300
The PAGE Study CentralAmerican Sub 2450 G=0.0351 A=0.9649
The PAGE Study SouthAmerican Sub 1982 G=0.0328 A=0.9672
The PAGE Study NativeAmerican Sub 1260 G=0.0556 A=0.9444
The PAGE Study SouthAsian Sub 854 G=0.070 A=0.930
8.3KJPN JAPANESE Study-wide 16760 G=0.00000 A=1.00000
1000Genomes Global Study-wide 5008 G=0.0581 A=0.9419
1000Genomes African Sub 1322 G=0.1354 A=0.8646
1000Genomes East Asian Sub 1008 G=0.0010 A=0.9990
1000Genomes Europe Sub 1006 G=0.0229 A=0.9771
1000Genomes South Asian Sub 978 G=0.060 A=0.940
1000Genomes American Sub 694 G=0.042 A=0.958
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.0431 A=0.9569
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0457 A=0.9543
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0445 A=0.9555
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0003 A=0.9997, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0005 A=0.9995
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.040 A=0.960
Northern Sweden ACPOP Study-wide 600 G=0.032 A=0.968
SGDP_PRJ Global Study-wide 552 G=0.029 A=0.971
HapMap Global Study-wide 328 G=0.070 A=0.930
HapMap African Sub 120 G=0.167 A=0.833
HapMap American Sub 120 G=0.025 A=0.975
HapMap Asian Sub 88 G=0.00 A=1.00
Qatari Global Study-wide 216 G=0.042 A=0.958
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.000 A=1.000
Siberian Global Study-wide 56 G=0.07 A=0.93
The Danish reference pan genome Danish Study-wide 40 G=0.03 A=0.97
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= A C T
GRCh38.p13 chr 10 NC_000010.11:g.60753840= NC_000010.11:g.60753840G>A NC_000010.11:g.60753840G>C NC_000010.11:g.60753840G>T
GRCh37.p13 chr 10 NC_000010.10:g.62513598= NC_000010.10:g.62513598G>A NC_000010.10:g.62513598G>C NC_000010.10:g.62513598G>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#.

80 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12111725 Jul 11, 2003 (116)
2 SC_SNP ss12953980 Dec 05, 2003 (123)
3 SC_SNP ss15868944 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss16493850 Feb 27, 2004 (120)
5 CSHL-HAPMAP ss17400090 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19177751 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19891863 Feb 27, 2004 (120)
8 SSAHASNP ss20688419 Apr 05, 2004 (121)
9 PERLEGEN ss23532769 Sep 20, 2004 (123)
10 HGSV ss77710263 Dec 07, 2007 (129)
11 HGSV ss78620204 Dec 07, 2007 (129)
12 HGSV ss83910033 Dec 14, 2007 (130)
13 BCMHGSC_JDW ss88235901 Mar 23, 2008 (129)
14 HUMANGENOME_JCVI ss97560214 Feb 04, 2009 (130)
15 BGI ss106681452 Feb 04, 2009 (130)
16 1000GENOMES ss109490868 Jan 24, 2009 (130)
17 1000GENOMES ss113347468 Jan 25, 2009 (130)
18 ILLUMINA-UK ss119190096 Feb 15, 2009 (130)
19 ENSEMBL ss131902820 Dec 01, 2009 (131)
20 ENSEMBL ss137964521 Dec 01, 2009 (131)
21 GMI ss155112226 Dec 01, 2009 (131)
22 COMPLETE_GENOMICS ss168447433 Jul 04, 2010 (132)
23 COMPLETE_GENOMICS ss170175480 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss174574978 Jul 04, 2010 (132)
25 BUSHMAN ss201594368 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss207000574 Jul 04, 2010 (132)
27 1000GENOMES ss224758292 Jul 14, 2010 (132)
28 1000GENOMES ss235199288 Jul 15, 2010 (132)
29 1000GENOMES ss241900531 Jul 15, 2010 (132)
30 BL ss254360421 May 09, 2011 (134)
31 GMI ss280640411 May 04, 2012 (137)
32 GMI ss286201280 Apr 25, 2013 (138)
33 PJP ss290850648 May 09, 2011 (134)
34 TISHKOFF ss561992975 Apr 25, 2013 (138)
35 SSMP ss656817702 Apr 25, 2013 (138)
36 EVA-GONL ss987549714 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1077032223 Aug 21, 2014 (142)
38 1000GENOMES ss1337667360 Aug 21, 2014 (142)
39 DDI ss1426339540 Apr 01, 2015 (144)
40 EVA_GENOME_DK ss1575154170 Apr 01, 2015 (144)
41 EVA_DECODE ss1597216177 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1624686655 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1667680688 Apr 01, 2015 (144)
44 HAMMER_LAB ss1806415934 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1930913655 Feb 12, 2016 (147)
46 ILLUMINA ss1959266808 Feb 12, 2016 (147)
47 GENOMED ss1967142942 Jul 19, 2016 (147)
48 JJLAB ss2026180061 Sep 14, 2016 (149)
49 USC_VALOUEV ss2154453213 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2175216695 Dec 20, 2016 (150)
51 TOPMED ss2338249056 Dec 20, 2016 (150)
52 SYSTEMSBIOZJU ss2627560384 Nov 08, 2017 (151)
53 GRF ss2698697326 Nov 08, 2017 (151)
54 GNOMAD ss2889429132 Nov 08, 2017 (151)
55 SWEGEN ss3006572713 Nov 08, 2017 (151)
56 ILLUMINA ss3021244546 Nov 08, 2017 (151)
57 BIOINF_KMB_FNS_UNIBA ss3026881182 Nov 08, 2017 (151)
58 TOPMED ss3121333599 Nov 08, 2017 (151)
59 TOPMED ss3121333600 Nov 08, 2017 (151)
60 CSHL ss3349150264 Nov 08, 2017 (151)
61 URBANLAB ss3649385474 Oct 12, 2018 (152)
62 ILLUMINA ss3651599711 Oct 12, 2018 (152)
63 EGCUT_WGS ss3673985179 Jul 13, 2019 (153)
64 EVA_DECODE ss3689992471 Jul 13, 2019 (153)
65 ILLUMINA ss3725161208 Jul 13, 2019 (153)
66 ACPOP ss3737372967 Jul 13, 2019 (153)
67 EVA ss3748171710 Jul 13, 2019 (153)
68 PAGE_CC ss3771560904 Jul 13, 2019 (153)
69 PACBIO ss3786688988 Jul 13, 2019 (153)
70 PACBIO ss3791867489 Jul 13, 2019 (153)
71 PACBIO ss3796749507 Jul 13, 2019 (153)
72 KHV_HUMAN_GENOMES ss3813547393 Jul 13, 2019 (153)
73 EVA ss3832155524 Apr 26, 2020 (154)
74 EVA ss3839617246 Apr 26, 2020 (154)
75 EVA ss3845089484 Apr 26, 2020 (154)
76 SGDP_PRJ ss3874329464 Apr 26, 2020 (154)
77 KRGDB ss3922399446 Apr 26, 2020 (154)
78 KOGIC ss3967992156 Apr 26, 2020 (154)
79 TOPMED ss4854401529 Apr 27, 2021 (155)
80 TOMMO_GENOMICS ss5197890891 Apr 27, 2021 (155)
81 1000Genomes NC_000010.10 - 62513598 Oct 12, 2018 (152)
82 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62513598 Oct 12, 2018 (152)
83 Genetic variation in the Estonian population NC_000010.10 - 62513598 Oct 12, 2018 (152)
84 The Danish reference pan genome NC_000010.10 - 62513598 Apr 26, 2020 (154)
85 gnomAD - Genomes NC_000010.11 - 60753840 Apr 27, 2021 (155)
86 Genome of the Netherlands Release 5 NC_000010.10 - 62513598 Apr 26, 2020 (154)
87 HapMap NC_000010.11 - 60753840 Apr 26, 2020 (154)
88 KOREAN population from KRGDB NC_000010.10 - 62513598 Apr 26, 2020 (154)
89 Korean Genome Project NC_000010.11 - 60753840 Apr 26, 2020 (154)
90 Northern Sweden NC_000010.10 - 62513598 Jul 13, 2019 (153)
91 The PAGE Study NC_000010.11 - 60753840 Jul 13, 2019 (153)
92 Qatari NC_000010.10 - 62513598 Apr 26, 2020 (154)
93 SGDP_PRJ NC_000010.10 - 62513598 Apr 26, 2020 (154)
94 Siberian NC_000010.10 - 62513598 Apr 26, 2020 (154)
95 8.3KJPN NC_000010.10 - 62513598 Apr 27, 2021 (155)
96 TopMed NC_000010.11 - 60753840 Apr 27, 2021 (155)
97 UK 10K study - Twins NC_000010.10 - 62513598 Oct 12, 2018 (152)
98 A Vietnamese Genetic Variation Database NC_000010.10 - 62513598 Jul 13, 2019 (153)
99 ALFA NC_000010.11 - 60753840 Apr 27, 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)
rs9414744 Oct 08, 2004 (123)
rs57739277 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77710263, ss78620204, ss83910033 NC_000010.8:62183603:G:A NC_000010.11:60753839:G:A (self)
ss88235901, ss109490868, ss113347468, ss119190096, ss168447433, ss170175480, ss174574978, ss201594368, ss207000574, ss254360421, ss280640411, ss286201280, ss290850648, ss1597216177 NC_000010.9:62183603:G:A NC_000010.11:60753839:G:A (self)
50063696, 27785907, 19723427, 2181589, 12392129, 29576840, 10657832, 12955585, 26346444, 6969567, 55860198, 27785907, 6171138, ss224758292, ss235199288, ss241900531, ss561992975, ss656817702, ss987549714, ss1077032223, ss1337667360, ss1426339540, ss1575154170, ss1624686655, ss1667680688, ss1806415934, ss1930913655, ss1959266808, ss1967142942, ss2026180061, ss2154453213, ss2338249056, ss2627560384, ss2698697326, ss2889429132, ss3006572713, ss3021244546, ss3349150264, ss3651599711, ss3673985179, ss3737372967, ss3748171710, ss3786688988, ss3791867489, ss3796749507, ss3832155524, ss3839617246, ss3874329464, ss3922399446, ss5197890891 NC_000010.10:62513597:G:A NC_000010.11:60753839:G:A (self)
353868369, 415685, 24370157, 782373, 43949268, 69947184, 4497348474, ss2175216695, ss3026881182, ss3121333599, ss3649385474, ss3689992471, ss3725161208, ss3771560904, ss3813547393, ss3845089484, ss3967992156, ss4854401529 NC_000010.11:60753839:G:A NC_000010.11:60753839:G:A (self)
ss12111725, ss12953980 NT_008583.15:11064745:G:A NC_000010.11:60753839:G:A (self)
ss15868944, ss16493850, ss17400090, ss19177751, ss19891863, ss20688419 NT_008583.16:11064752:G:A NC_000010.11:60753839:G:A (self)
ss23532769, ss97560214, ss106681452, ss131902820, ss137964521, ss155112226 NT_030059.13:13318061:G:A NC_000010.11:60753839:G:A (self)
29576840, ss3922399446 NC_000010.10:62513597:G:C NC_000010.11:60753839:G:C (self)
4497348474, ss3121333600 NC_000010.11:60753839:G:C NC_000010.11:60753839:G:C (self)
29576840, ss3922399446 NC_000010.10:62513597:G:T NC_000010.11:60753839: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 rs7920875

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