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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.

rs377686931

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:133458034 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000283 (75/264690, TOPMED)
T=0.000315 (79/250432, GnomAD_exome)
T=0.000314 (44/140278, GnomAD) (+ 6 more)
T=0.000300 (36/119818, ExAC)
T=0.00014 (11/78464, PAGE_STUDY)
T=0.00035 (16/45190, ALFA)
T=0.00031 (4/13006, GO-ESP)
T=0.0005 (2/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADAMTS13 : Synonymous Variant
CACFD1 : 2KB Upstream Variant
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 61552 C=0.99968 T=0.00032
European Sub 42820 C=0.99967 T=0.00033
African Sub 8820 C=1.0000 T=0.0000
African Others Sub 306 C=1.000 T=0.000
African American Sub 8514 C=1.0000 T=0.0000
Asian Sub 168 C=1.000 T=0.000
East Asian Sub 112 C=1.000 T=0.000
Other Asian Sub 56 C=1.00 T=0.00
Latin American 1 Sub 498 C=1.000 T=0.000
Latin American 2 Sub 626 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 8522 C=0.9993 T=0.0007


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=0.999717 T=0.000283
gnomAD - Exomes Global Study-wide 250432 C=0.999685 T=0.000315
gnomAD - Exomes European Sub 134582 C=0.999591 T=0.000409
gnomAD - Exomes Asian Sub 48986 C=1.00000 T=0.00000
gnomAD - Exomes American Sub 34572 C=0.99962 T=0.00038
gnomAD - Exomes African Sub 16154 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10032 C=0.99900 T=0.00100
gnomAD - Exomes Other Sub 6106 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140278 C=0.999686 T=0.000314
gnomAD - Genomes European Sub 75956 C=0.99964 T=0.00036
gnomAD - Genomes African Sub 42046 C=0.99993 T=0.00007
gnomAD - Genomes American Sub 13668 C=0.99905 T=0.00095
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9997 T=0.0003
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
ExAC Global Study-wide 119818 C=0.999700 T=0.000300
ExAC Europe Sub 72086 C=0.99950 T=0.00050
ExAC Asian Sub 25102 C=1.00000 T=0.00000
ExAC American Sub 11508 C=1.00000 T=0.00000
ExAC African Sub 10232 C=1.00000 T=0.00000
ExAC Other Sub 890 C=1.000 T=0.000
The PAGE Study Global Study-wide 78464 C=0.99986 T=0.00014
The PAGE Study AfricanAmerican Sub 32418 C=0.99991 T=0.00009
The PAGE Study Mexican Sub 10768 C=0.99991 T=0.00009
The PAGE Study Asian Sub 8300 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7892 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4516 C=1.0000 T=0.0000
The PAGE Study Cuban Sub 4218 C=0.9988 T=0.0012
The PAGE Study Dominican Sub 3824 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2442 C=0.9996 T=0.0004
The PAGE Study SouthAmerican Sub 1974 C=0.9995 T=0.0005
The PAGE Study NativeAmerican Sub 1256 C=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
Allele Frequency Aggregator Total Global 45190 C=0.99965 T=0.00035
Allele Frequency Aggregator European Sub 32730 C=0.99966 T=0.00034
Allele Frequency Aggregator Other Sub 7088 C=0.9993 T=0.0007
Allele Frequency Aggregator African Sub 3982 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 626 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99969 T=0.00031
GO Exome Sequencing Project European American Sub 8600 C=0.9995 T=0.0005
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9995 T=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 T=0.0003
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 9 NC_000009.12:g.133458034C>T
GRCh37.p13 chr 9 NC_000009.11:g.136323156C>T
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.48696C>T
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.284128C>T
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.284128C>T
Gene: CACFD1, calcium channel flower domain containing 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
CACFD1 transcript variant 2 NM_001135775.4:c. N/A Upstream Transcript Variant
CACFD1 transcript variant 3 NM_001242369.2:c. N/A Upstream Transcript Variant
CACFD1 transcript variant 4 NM_001242370.2:c. N/A Upstream Transcript Variant
CACFD1 transcript variant 1 NM_017586.5:c. N/A Upstream Transcript Variant
CACFD1 transcript variant X1 XM_011518181.3:c. N/A N/A
CACFD1 transcript variant X3 XM_011518184.2:c. N/A N/A
CACFD1 transcript variant X4 XM_011518185.3:c. N/A N/A
CACFD1 transcript variant X2 XM_024447398.2:c. N/A N/A
Gene: ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADAMTS13 transcript variant 2 NM_139027.6:c.3849C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein NP_620596.2:p.Ile1283= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant 1 NM_139025.5:c.4017C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein NP_620594.1:p.Ile1339= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant 3 NM_139026.6:c.3756C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein NP_620595.1:p.Ile1252= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant 4 NR_024514.3:n. N/A Intron Variant
ADAMTS13 transcript variant X8 XM_017014235.2:c. N/A Genic Downstream Transcript Variant
ADAMTS13 transcript variant X9 XM_047422700.1:c. N/A Genic Downstream Transcript Variant
ADAMTS13 transcript variant X7 XM_011518179.1:c.2682C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7 XP_011516481.1:p.Ile894= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant X5 XM_017014234.2:c.3027C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5 XP_016869723.1:p.Ile1009= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant X1 XM_017014232.2:c.4005C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1 XP_016869721.1:p.Ile1335= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant X2 XM_047422699.1:c.3924C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Ile1308= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant X3 XM_017014233.2:c.3627C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3 XP_016869722.1:p.Ile1209= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant X4 XM_011518176.4:c.3033C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4 XP_011516478.1:p.Ile1011= I (Ile) > I (Ile) Synonymous Variant
ADAMTS13 transcript variant X6 XM_011518178.3:c.2682C>T I [ATC] > I [ATT] Coding Sequence Variant
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6 XP_011516480.1:p.Ile894= I (Ile) > I (Ile) Synonymous 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: T (allele ID: 1327055 )
ClinVar Accession Disease Names Clinical Significance
RCV001822225.3 not specified Likely-Benign
RCV002074262.4 not provided Likely-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= T
GRCh38.p14 chr 9 NC_000009.12:g.133458034= NC_000009.12:g.133458034C>T
GRCh37.p13 chr 9 NC_000009.11:g.136323156= NC_000009.11:g.136323156C>T
ADAMTS13 RefSeqGene (LRG_544) NG_011934.2:g.48696= NG_011934.2:g.48696C>T
ADAMTS13 transcript variant 2 NM_139027.6:c.3849= NM_139027.6:c.3849C>T
ADAMTS13 transcript variant 2 NM_139027.5:c.3849= NM_139027.5:c.3849C>T
ADAMTS13 transcript variant 2 NM_139027.4:c.3849= NM_139027.4:c.3849C>T
ADAMTS13 transcript variant 3 NM_139026.6:c.3756= NM_139026.6:c.3756C>T
ADAMTS13 transcript variant 3 NM_139026.5:c.3756= NM_139026.5:c.3756C>T
ADAMTS13 transcript variant 3 NM_139026.4:c.3756= NM_139026.4:c.3756C>T
ADAMTS13 transcript variant 1 NM_139025.5:c.4017= NM_139025.5:c.4017C>T
ADAMTS13 transcript variant 1 NM_139025.4:c.4017= NM_139025.4:c.4017C>T
GRCh38.p14 chr 9 fix patch HG2030_PATCH NW_009646201.1:g.284128= NW_009646201.1:g.284128C>T
GRCh37.p13 chr 9 fix patch HG79_PATCH NW_003315925.1:g.284128= NW_003315925.1:g.284128C>T
ADAMTS13 transcript variant X4 XM_011518176.4:c.3033= XM_011518176.4:c.3033C>T
ADAMTS13 transcript variant X3 XM_011518176.3:c.3033= XM_011518176.3:c.3033C>T
ADAMTS13 transcript variant X3 XM_011518176.2:c.3033= XM_011518176.2:c.3033C>T
ADAMTS13 transcript variant X3 XM_011518176.1:c.3033= XM_011518176.1:c.3033C>T
ADAMTS13 transcript variant X6 XM_011518178.3:c.2682= XM_011518178.3:c.2682C>T
ADAMTS13 transcript variant X5 XM_011518178.2:c.2682= XM_011518178.2:c.2682C>T
ADAMTS13 transcript variant X5 XM_011518178.1:c.2682= XM_011518178.1:c.2682C>T
ADAMTS13 transcript variant X1 XM_017014232.2:c.4005= XM_017014232.2:c.4005C>T
ADAMTS13 transcript variant X1 XM_017014232.1:c.4005= XM_017014232.1:c.4005C>T
ADAMTS13 transcript variant X5 XM_017014234.2:c.3027= XM_017014234.2:c.3027C>T
ADAMTS13 transcript variant X4 XM_017014234.1:c.3027= XM_017014234.1:c.3027C>T
DKFZp434C2322 transcript NM_032252.1:c.405= NM_032252.1:c.405C>T
ADAMTS13 transcript variant X3 XM_017014233.2:c.3627= XM_017014233.2:c.3627C>T
ADAMTS13 transcript variant X2 XM_017014233.1:c.3627= XM_017014233.1:c.3627C>T
ADAMTS13 transcript NM_017587.2:c.4017= NM_017587.2:c.4017C>T
ADAMTS13 transcript variant X2 XM_047422699.1:c.3924= XM_047422699.1:c.3924C>T
ADAMTS13 transcript variant X7 XM_011518179.1:c.2682= XM_011518179.1:c.2682C>T
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein NP_620596.2:p.Ile1283= NP_620596.2:p.Ile1283=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein NP_620595.1:p.Ile1252= NP_620595.1:p.Ile1252=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein NP_620594.1:p.Ile1339= NP_620594.1:p.Ile1339=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4 XP_011516478.1:p.Ile1011= XP_011516478.1:p.Ile1011=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6 XP_011516480.1:p.Ile894= XP_011516480.1:p.Ile894=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1 XP_016869721.1:p.Ile1335= XP_016869721.1:p.Ile1335=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5 XP_016869723.1:p.Ile1009= XP_016869723.1:p.Ile1009=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3 XP_016869722.1:p.Ile1209= XP_016869722.1:p.Ile1209=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2 XP_047278655.1:p.Ile1308= XP_047278655.1:p.Ile1308=
A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7 XP_011516481.1:p.Ile894= XP_011516481.1:p.Ile894=
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#.

20 SubSNP, 9 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss712926755 Apr 25, 2013 (138)
2 EVA_UK10K_ALSPAC ss1623716501 Apr 09, 2015 (144)
3 EVA_UK10K_TWINSUK ss1666710534 Apr 09, 2015 (144)
4 EVA_EXAC ss1689724990 Apr 09, 2015 (144)
5 ILLUMINA ss1959224214 Feb 12, 2016 (147)
6 HUMAN_LONGEVITY ss2315031354 Dec 20, 2016 (150)
7 GNOMAD ss2737975555 Oct 12, 2018 (152)
8 GNOMAD ss2748300206 Oct 12, 2018 (152)
9 GNOMAD ss2884035555 Oct 12, 2018 (152)
10 SWEGEN ss3005710937 Oct 12, 2018 (152)
11 ILLUMINA ss3022973725 Oct 12, 2018 (152)
12 ILLUMINA ss3653530266 Oct 12, 2018 (152)
13 ILLUMINA ss3726650788 Jul 13, 2019 (153)
14 PAGE_CC ss3771531219 Jul 13, 2019 (153)
15 EVA ss3824480539 Apr 26, 2020 (154)
16 EVA ss3986467373 Apr 26, 2021 (155)
17 GNOMAD ss4210695033 Apr 26, 2021 (155)
18 TOPMED ss4838151588 Apr 26, 2021 (155)
19 HUGCELL_USP ss5478276765 Oct 16, 2022 (156)
20 EVA ss5977619785 Oct 16, 2022 (156)
21 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 136323156 Oct 12, 2018 (152)
22 ExAC NC_000009.11 - 136323156 Oct 12, 2018 (152)
23 gnomAD - Genomes NC_000009.12 - 133458034 Apr 26, 2021 (155)
24 gnomAD - Exomes NC_000009.11 - 136323156 Jul 13, 2019 (153)
25 GO Exome Sequencing Project NC_000009.11 - 136323156 Oct 12, 2018 (152)
26 The PAGE Study NC_000009.12 - 133458034 Jul 13, 2019 (153)
27 TopMed NC_000009.12 - 133458034 Apr 26, 2021 (155)
28 UK 10K study - Twins NC_000009.11 - 136323156 Oct 12, 2018 (152)
29 ALFA NC_000009.12 - 133458034 Apr 26, 2021 (155)
30 ClinVar RCV001822225.3 Oct 16, 2022 (156)
31 ClinVar RCV002074262.4 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
26718141, 9865781, 7165789, 938274, 26718141, ss712926755, ss1623716501, ss1666710534, ss1689724990, ss1959224214, ss2737975555, ss2748300206, ss2884035555, ss3005710937, ss3022973725, ss3653530266, ss3824480539, ss3986467373, ss5977619785 NC_000009.11:136323155:C:T NC_000009.12:133458033:C:T (self)
RCV001822225.3, RCV002074262.4, 339743675, 752688, 675529149, 6483007798, ss2315031354, ss3726650788, ss3771531219, ss4210695033, ss4838151588, ss5478276765 NC_000009.12:133458033:C:T NC_000009.12:133458033:C: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 rs377686931

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