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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs7895372

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:15677622 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.033050 (8748/264690, TOPMED)
G=0.007511 (1884/250848, GnomAD_exome)
G=0.030218 (4235/140146, GnomAD) (+ 13 more)
G=0.009289 (1127/121324, ExAC)
G=0.005078 (560/110284, ALFA)
G=0.04707 (3704/78696, PAGE_STUDY)
G=0.03514 (457/13006, GO-ESP)
G=0.0334 (214/6404, 1000G_30x)
G=0.0306 (153/5008, 1000G)
G=0.0000 (0/3854, ALSPAC)
G=0.0003 (1/3708, TWINSUK)
G=0.092 (91/994, HapMap)
G=0.060 (13/216, Qatari)
G=0.00 (0/72, Ancient Sardinia)
C=0.50 (10/20, SGDP_PRJ)
G=0.50 (10/20, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ITGA8 : Missense Variant
Publications
1 citation
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 110284 C=0.994922 G=0.005078
European Sub 92528 C=0.99968 G=0.00032
African Sub 4374 C=0.9070 G=0.0930
African Others Sub 174 C=0.885 G=0.115
African American Sub 4200 C=0.9079 G=0.0921
Asian Sub 3328 C=0.9910 G=0.0090
East Asian Sub 2672 C=1.0000 G=0.0000
Other Asian Sub 656 C=0.954 G=0.046
Latin American 1 Sub 790 C=0.972 G=0.028
Latin American 2 Sub 946 C=0.994 G=0.006
South Asian Sub 274 C=1.000 G=0.000
Other Sub 8044 C=0.9919 G=0.0081


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=0.966950 G=0.033050
gnomAD - Exomes Global Study-wide 250848 C=0.992489 G=0.007511
gnomAD - Exomes European Sub 135146 C=0.999748 G=0.000252
gnomAD - Exomes Asian Sub 48910 C=0.99992 G=0.00008
gnomAD - Exomes American Sub 34432 C=0.99530 G=0.00470
gnomAD - Exomes African Sub 16188 C=0.89838 G=0.10162
gnomAD - Exomes Ashkenazi Jewish Sub 10068 C=0.99861 G=0.00139
gnomAD - Exomes Other Sub 6104 C=0.9959 G=0.0041
gnomAD - Genomes Global Study-wide 140146 C=0.969782 G=0.030218
gnomAD - Genomes European Sub 75932 C=0.99974 G=0.00026
gnomAD - Genomes African Sub 41976 C=0.90378 G=0.09622
gnomAD - Genomes American Sub 13628 C=0.99053 G=0.00947
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9982 G=0.0018
gnomAD - Genomes East Asian Sub 3134 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 C=0.9810 G=0.0190
ExAC Global Study-wide 121324 C=0.990711 G=0.009289
ExAC Europe Sub 73312 C=0.99967 G=0.00033
ExAC Asian Sub 25150 C=0.99988 G=0.00012
ExAC American Sub 11554 C=0.99593 G=0.00407
ExAC African Sub 10400 C=0.89923 G=0.10077
ExAC Other Sub 908 C=0.994 G=0.006
Allele Frequency Aggregator Total Global 110284 C=0.994922 G=0.005078
Allele Frequency Aggregator European Sub 92528 C=0.99968 G=0.00032
Allele Frequency Aggregator Other Sub 8044 C=0.9919 G=0.0081
Allele Frequency Aggregator African Sub 4374 C=0.9070 G=0.0930
Allele Frequency Aggregator Asian Sub 3328 C=0.9910 G=0.0090
Allele Frequency Aggregator Latin American 2 Sub 946 C=0.994 G=0.006
Allele Frequency Aggregator Latin American 1 Sub 790 C=0.972 G=0.028
Allele Frequency Aggregator South Asian Sub 274 C=1.000 G=0.000
The PAGE Study Global Study-wide 78696 C=0.95293 G=0.04707
The PAGE Study AfricanAmerican Sub 32516 C=0.90595 G=0.09405
The PAGE Study Mexican Sub 10808 C=0.99519 G=0.00481
The PAGE Study Asian Sub 8316 C=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9677 G=0.0323
The PAGE Study NativeHawaiian Sub 4534 C=0.9971 G=0.0029
The PAGE Study Cuban Sub 4230 C=0.9844 G=0.0156
The PAGE Study Dominican Sub 3828 C=0.9535 G=0.0465
The PAGE Study CentralAmerican Sub 2448 C=0.9833 G=0.0167
The PAGE Study SouthAmerican Sub 1982 C=0.9879 G=0.0121
The PAGE Study NativeAmerican Sub 1260 C=0.9881 G=0.0119
The PAGE Study SouthAsian Sub 856 C=0.999 G=0.001
GO Exome Sequencing Project Global Study-wide 13006 C=0.96486 G=0.03514
GO Exome Sequencing Project European American Sub 8600 C=0.9995 G=0.0005
GO Exome Sequencing Project African American Sub 4406 C=0.8972 G=0.1028
1000Genomes_30x Global Study-wide 6404 C=0.9666 G=0.0334
1000Genomes_30x African Sub 1786 C=0.8858 G=0.1142
1000Genomes_30x Europe Sub 1266 C=1.0000 G=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 G=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 G=0.0000
1000Genomes_30x American Sub 980 C=0.990 G=0.010
1000Genomes Global Study-wide 5008 C=0.9694 G=0.0306
1000Genomes African Sub 1322 C=0.8903 G=0.1097
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=1.0000 G=0.0000
1000Genomes South Asian Sub 978 C=1.000 G=0.000
1000Genomes American Sub 694 C=0.988 G=0.012
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=1.0000 G=0.0000
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 G=0.0003
HapMap Global Study-wide 994 C=0.908 G=0.092
HapMap African Sub 688 C=0.888 G=0.112
HapMap American Sub 218 C=0.936 G=0.064
HapMap Asian Sub 88 C=1.00 G=0.00
Qatari Global Study-wide 216 C=0.940 G=0.060
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 C=1.00 G=0.00
SGDP_PRJ Global Study-wide 20 C=0.50 G=0.50
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 10 NC_000010.11:g.15677622C>G
GRCh37.p13 chr 10 NC_000010.10:g.15719621C>G
ITGA8 RefSeqGene NG_034116.1:g.47714G>C
Gene: ITGA8, integrin subunit alpha 8 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ITGA8 transcript variant 1 NM_003638.3:c.646G>C V [GTG] > L [CTG] Coding Sequence Variant
integrin alpha-8 isoform 1 preproprotein NP_003629.2:p.Val216Leu V (Val) > L (Leu) Missense Variant
ITGA8 transcript variant 2 NM_001291494.2:c.646G>C V [GTG] > L [CTG] Coding Sequence Variant
integrin alpha-8 isoform 2 preproprotein NP_001278423.1:p.Val216Leu V (Val) > L (Leu) Missense Variant
ITGA8 transcript variant X1 XM_011519752.3:c.646G>C V [GTG] > L [CTG] Coding Sequence Variant
integrin alpha-8 isoform X1 XP_011518054.1:p.Val216Leu V (Val) > L (Leu) Missense Variant
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.

Allele: G (allele ID: 701270 )
ClinVar Accession Disease Names Clinical Significance
RCV000956810.5 not provided Benign
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= G
GRCh38.p14 chr 10 NC_000010.11:g.15677622= NC_000010.11:g.15677622C>G
GRCh37.p13 chr 10 NC_000010.10:g.15719621= NC_000010.10:g.15719621C>G
ITGA8 RefSeqGene NG_034116.1:g.47714= NG_034116.1:g.47714G>C
ITGA8 transcript variant 1 NM_003638.3:c.646= NM_003638.3:c.646G>C
ITGA8 transcript variant 1 NM_003638.2:c.646= NM_003638.2:c.646G>C
ITGA8 transcript NM_003638.1:c.646= NM_003638.1:c.646G>C
ITGA8 transcript variant 2 NM_001291494.2:c.646= NM_001291494.2:c.646G>C
ITGA8 transcript variant 2 NM_001291494.1:c.646= NM_001291494.1:c.646G>C
ITGA8 transcript variant X1 XM_011519752.3:c.646= XM_011519752.3:c.646G>C
ITGA8 transcript variant X1 XM_011519752.2:c.646= XM_011519752.2:c.646G>C
ITGA8 transcript variant X1 XM_011519752.1:c.646= XM_011519752.1:c.646G>C
integrin alpha-8 isoform 1 preproprotein NP_003629.2:p.Val216= NP_003629.2:p.Val216Leu
integrin alpha-8 isoform 2 preproprotein NP_001278423.1:p.Val216= NP_001278423.1:p.Val216Leu
integrin alpha-8 isoform X1 XP_011518054.1:p.Val216= XP_011518054.1:p.Val216Leu
integrin alpha-8 precursor NP_003629.1:p.Val216= NP_003629.1:p.Val216Leu
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#.

74 SubSNP, 15 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12062970 Jul 11, 2003 (116)
2 PGA-UW-FHCRC ss12675860 Dec 05, 2003 (119)
3 PGA-UW-FHCRC ss16361762 Feb 27, 2004 (120)
4 PGA-UW-FHCRC ss52087866 Oct 16, 2006 (127)
5 ILLUMINA ss65729626 Oct 16, 2006 (127)
6 AFFY ss66457848 Dec 02, 2006 (127)
7 PERLEGEN ss69072152 May 18, 2007 (127)
8 ILLUMINA ss74877704 Dec 07, 2007 (129)
9 AFFY ss76253852 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss82510865 Dec 15, 2007 (130)
11 CORNELL ss86262194 Mar 23, 2008 (129)
12 SEATTLESEQ ss159720051 Dec 01, 2009 (131)
13 AFFY ss172988337 Jul 04, 2010 (132)
14 ILLUMINA ss174605985 Jul 04, 2010 (132)
15 1000GENOMES ss224588612 Jul 14, 2010 (132)
16 NHLBI-ESP ss342293281 May 09, 2011 (134)
17 1000GENOMES ss490993038 May 04, 2012 (137)
18 EXOME_CHIP ss491432817 May 04, 2012 (137)
19 CLINSEQ_SNP ss491621764 May 04, 2012 (137)
20 ILLUMINA ss534615313 Sep 08, 2015 (146)
21 TISHKOFF ss561797842 Apr 25, 2013 (138)
22 ILLUMINA ss780884622 Aug 21, 2014 (142)
23 ILLUMINA ss783570662 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1067511122 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1076794378 Aug 21, 2014 (142)
26 1000GENOMES ss1336431214 Aug 21, 2014 (142)
27 EVA_UK10K_ALSPAC ss1624072618 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1667066651 Apr 01, 2015 (144)
29 EVA_EXAC ss1689827436 Apr 01, 2015 (144)
30 ILLUMINA ss1751959060 Sep 08, 2015 (146)
31 HAMMER_LAB ss1806275876 Sep 08, 2015 (146)
32 ILLUMINA ss1917844930 Feb 12, 2016 (147)
33 WEILL_CORNELL_DGM ss1930563186 Feb 12, 2016 (147)
34 ILLUMINA ss1946276941 Feb 12, 2016 (147)
35 ILLUMINA ss1959242940 Feb 12, 2016 (147)
36 ILLUMINA ss2095007334 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2172967677 Dec 20, 2016 (150)
38 ILLUMINA ss2632681784 Nov 08, 2017 (151)
39 GNOMAD ss2738128944 Nov 08, 2017 (151)
40 GNOMAD ss2748351709 Nov 08, 2017 (151)
41 GNOMAD ss2885932483 Nov 08, 2017 (151)
42 AFFY ss2984906646 Nov 08, 2017 (151)
43 SWEGEN ss3006002616 Nov 08, 2017 (151)
44 ILLUMINA ss3626397117 Oct 12, 2018 (152)
45 ILLUMINA ss3626397118 Oct 12, 2018 (152)
46 ILLUMINA ss3634392681 Oct 12, 2018 (152)
47 ILLUMINA ss3637836838 Oct 12, 2018 (152)
48 ILLUMINA ss3640100029 Oct 12, 2018 (152)
49 ILLUMINA ss3642841215 Oct 12, 2018 (152)
50 ILLUMINA ss3644529637 Oct 12, 2018 (152)
51 ILLUMINA ss3651567926 Oct 12, 2018 (152)
52 ILLUMINA ss3653676448 Oct 12, 2018 (152)
53 EVA_DECODE ss3689362197 Jul 13, 2019 (153)
54 ILLUMINA ss3744364705 Jul 13, 2019 (153)
55 ILLUMINA ss3744693601 Jul 13, 2019 (153)
56 PAGE_CC ss3771544837 Jul 13, 2019 (153)
57 ILLUMINA ss3772194241 Jul 13, 2019 (153)
58 EVA ss3824503182 Apr 26, 2020 (154)
59 EVA ss3825771882 Apr 26, 2020 (154)
60 SGDP_PRJ ss3873618933 Apr 26, 2020 (154)
61 FSA-LAB ss3983973612 Apr 26, 2021 (155)
62 EVA ss3985461082 Apr 26, 2021 (155)
63 EVA ss3986477296 Apr 26, 2021 (155)
64 EVA ss4017473260 Apr 26, 2021 (155)
65 TOPMED ss4843697706 Apr 26, 2021 (155)
66 1000G_HIGH_COVERAGE ss5283058286 Oct 16, 2022 (156)
67 EVA ss5391842719 Oct 16, 2022 (156)
68 HUGCELL_USP ss5478821938 Oct 16, 2022 (156)
69 1000G_HIGH_COVERAGE ss5576506092 Oct 16, 2022 (156)
70 SANFORD_IMAGENETICS ss5624241494 Oct 16, 2022 (156)
71 SANFORD_IMAGENETICS ss5648755881 Oct 16, 2022 (156)
72 EVA ss5847588405 Oct 16, 2022 (156)
73 EVA ss5877893656 Oct 16, 2022 (156)
74 EVA ss5940043808 Oct 16, 2022 (156)
75 1000Genomes NC_000010.10 - 15719621 Oct 12, 2018 (152)
76 1000Genomes_30x NC_000010.11 - 15677622 Oct 16, 2022 (156)
77 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 15719621 Oct 12, 2018 (152)
78 ExAC NC_000010.10 - 15719621 Oct 12, 2018 (152)
79 gnomAD - Genomes NC_000010.11 - 15677622 Apr 26, 2021 (155)
80 gnomAD - Exomes NC_000010.10 - 15719621 Jul 13, 2019 (153)
81 GO Exome Sequencing Project NC_000010.10 - 15719621 Oct 12, 2018 (152)
82 HapMap NC_000010.11 - 15677622 Apr 26, 2020 (154)
83 The PAGE Study NC_000010.11 - 15677622 Jul 13, 2019 (153)
84 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 15719621 Apr 26, 2021 (155)
85 Qatari NC_000010.10 - 15719621 Apr 26, 2020 (154)
86 SGDP_PRJ NC_000010.10 - 15719621 Apr 26, 2020 (154)
87 TopMed NC_000010.11 - 15677622 Apr 26, 2021 (155)
88 UK 10K study - Twins NC_000010.10 - 15719621 Oct 12, 2018 (152)
89 ALFA NC_000010.11 - 15677622 Apr 26, 2021 (155)
90 ClinVar RCV000956810.5 Oct 16, 2022 (156)
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)
rs59979836 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66457848, ss76253852, ss172988337, ss491621764, ss3642841215 NC_000010.9:15759626:C:G NC_000010.11:15677621:C:G (self)
48783097, 27109377, 42386, 7323629, 960901, 687009, 12605116, 25635913, 27109377, ss224588612, ss342293281, ss490993038, ss491432817, ss534615313, ss561797842, ss780884622, ss783570662, ss1067511122, ss1076794378, ss1336431214, ss1624072618, ss1667066651, ss1689827436, ss1751959060, ss1806275876, ss1917844930, ss1930563186, ss1946276941, ss1959242940, ss2095007334, ss2632681784, ss2738128944, ss2748351709, ss2885932483, ss2984906646, ss3006002616, ss3626397117, ss3626397118, ss3634392681, ss3637836838, ss3640100029, ss3644529637, ss3651567926, ss3653676448, ss3744364705, ss3744693601, ss3772194241, ss3824503182, ss3825771882, ss3873618933, ss3983973612, ss3985461082, ss3986477296, ss4017473260, ss5391842719, ss5624241494, ss5648755881, ss5847588405, ss5940043808 NC_000010.10:15719620:C:G NC_000010.11:15677621:C:G (self)
RCV000956810.5, 64032027, 344516633, 348384, 766306, 59243361, 14779870381, ss2172967677, ss3689362197, ss3771544837, ss4843697706, ss5283058286, ss5478821938, ss5576506092, ss5877893656 NC_000010.11:15677621:C:G NC_000010.11:15677621:C:G (self)
ss12675860, ss16361762, ss52087866, ss65729626, ss69072152, ss74877704, ss82510865, ss86262194, ss159720051, ss174605985 NT_008705.16:15659620:C:G NC_000010.11:15677621:C:G (self)
ss12062970 NT_077569.2:10082516:C:G NC_000010.11:15677621:C:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs7895372
PMID Title Author Year Journal
19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Lowe JK et al. 2009 PLoS genetics
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