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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.

rs11984762

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:142227859 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.072870 (19288/264690, TOPMED)
C=0.069841 (9795/140248, GnomAD)
C=0.03722 (1377/37000, ALFA) (+ 10 more)
C=0.00004 (1/28258, 14KJPN)
C=0.00006 (1/16760, 8.3KJPN)
C=0.0690 (442/6404, 1000G_30x)
C=0.0625 (313/5008, 1000G)
C=0.0005 (2/3854, ALSPAC)
C=0.0000 (0/3708, TWINSUK)
C=0.1155 (127/1100, HapMap)
C=0.006 (4/626, Chileans)
C=0.051 (11/216, Qatari)
T=0.44 (14/32, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSNARE1 : Intron 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 37000 T=0.96278 C=0.03722
European Sub 25520 T=0.99926 C=0.00074
African Sub 5614 T=0.7775 C=0.2225
African Others Sub 192 T=0.708 C=0.292
African American Sub 5422 T=0.7800 C=0.2200
Asian Sub 486 T=1.000 C=0.000
East Asian Sub 388 T=1.000 C=0.000
Other Asian Sub 98 T=1.00 C=0.00
Latin American 1 Sub 580 T=0.936 C=0.064
Latin American 2 Sub 980 T=0.992 C=0.008
South Asian Sub 174 T=1.000 C=0.000
Other Sub 3646 T=0.9824 C=0.0176


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=0.927130 C=0.072870
gnomAD - Genomes Global Study-wide 140248 T=0.930159 C=0.069841
gnomAD - Genomes European Sub 75962 T=0.99925 C=0.00075
gnomAD - Genomes African Sub 42014 T=0.77693 C=0.22307
gnomAD - Genomes American Sub 13660 T=0.98163 C=0.01837
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.9997 C=0.0003
gnomAD - Genomes East Asian Sub 3134 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9471 C=0.0529
Allele Frequency Aggregator Total Global 37000 T=0.96278 C=0.03722
Allele Frequency Aggregator European Sub 25520 T=0.99926 C=0.00074
Allele Frequency Aggregator African Sub 5614 T=0.7775 C=0.2225
Allele Frequency Aggregator Other Sub 3646 T=0.9824 C=0.0176
Allele Frequency Aggregator Latin American 2 Sub 980 T=0.992 C=0.008
Allele Frequency Aggregator Latin American 1 Sub 580 T=0.936 C=0.064
Allele Frequency Aggregator Asian Sub 486 T=1.000 C=0.000
Allele Frequency Aggregator South Asian Sub 174 T=1.000 C=0.000
14KJPN JAPANESE Study-wide 28258 T=0.99996 C=0.00004
8.3KJPN JAPANESE Study-wide 16760 T=0.99994 C=0.00006
1000Genomes_30x Global Study-wide 6404 T=0.9310 C=0.0690
1000Genomes_30x African Sub 1786 T=0.7620 C=0.2380
1000Genomes_30x Europe Sub 1266 T=0.9992 C=0.0008
1000Genomes_30x South Asian Sub 1202 T=1.0000 C=0.0000
1000Genomes_30x East Asian Sub 1170 T=1.0000 C=0.0000
1000Genomes_30x American Sub 980 T=0.984 C=0.016
1000Genomes Global Study-wide 5008 T=0.9375 C=0.0625
1000Genomes African Sub 1322 T=0.7723 C=0.2277
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=0.9990 C=0.0010
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=0.984 C=0.016
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9995 C=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=1.0000 C=0.0000
HapMap Global Study-wide 1100 T=0.8845 C=0.1155
HapMap African Sub 692 T=0.848 C=0.152
HapMap American Sub 318 T=0.931 C=0.069
HapMap Asian Sub 90 T=1.00 C=0.00
Chileans Chilean Study-wide 626 T=0.994 C=0.006
Qatari Global Study-wide 216 T=0.949 C=0.051
SGDP_PRJ Global Study-wide 32 T=0.44 C=0.56
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 8 NC_000008.11:g.142227859T>C
GRCh37.p13 chr 8 NC_000008.10:g.143309220T>C
Gene: TSNARE1, t-SNARE domain containing 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TSNARE1 transcript variant 3 NM_001363740.2:c.*11+1614…

NM_001363740.2:c.*11+1614A>G

 		N/A Intron Variant
TSNARE1 transcript variant 4 NM_001366901.1:c.*11+1614…

NM_001366901.1:c.*11+1614A>G

 		N/A Intron Variant
TSNARE1 transcript variant 1 NM_145003.5:c.*11+1614A>G N/A Intron Variant
TSNARE1 transcript variant 2 NM_001291931.2:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant 5 NM_001366902.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant 6 NM_001366903.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant 7 NM_001366904.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X6 XM_011516912.3:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X32 XM_011516921.2:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X41 XM_011516924.2:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X33 XM_017013179.2:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X2 XM_047421457.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X3 XM_047421458.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X4 XM_047421459.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X5 XM_047421460.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X7 XM_047421461.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X8 XM_047421462.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X9 XM_047421463.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X10 XM_047421464.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X11 XM_047421465.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X12 XM_047421466.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X13 XM_047421467.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X14 XM_047421468.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X15 XM_047421469.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X16 XM_047421470.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X17 XM_047421471.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X18 XM_047421472.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X19 XM_047421473.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X20 XM_047421474.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X22 XM_047421475.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X23 XM_047421476.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X24 XM_047421477.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X25 XM_047421478.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X26 XM_047421479.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X27 XM_047421480.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X28 XM_047421481.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X29 XM_047421482.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X30 XM_047421483.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X31 XM_047421484.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X34 XM_047421485.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X35 XM_047421486.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X36 XM_047421487.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X37 XM_047421488.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X38 XM_047421489.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X39 XM_047421490.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X40 XM_047421491.1:c. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X1 XR_007060717.1:n. N/A Genic Downstream Transcript Variant
TSNARE1 transcript variant X21 XR_007060718.1:n. N/A Genic Downstream Transcript 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.

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= C
GRCh38.p14 chr 8 NC_000008.11:g.142227859= NC_000008.11:g.142227859T>C
GRCh37.p13 chr 8 NC_000008.10:g.143309220= NC_000008.10:g.143309220T>C
TSNARE1 transcript variant 3 NM_001363740.2:c.*11+1614= NM_001363740.2:c.*11+1614A>G
TSNARE1 transcript variant 4 NM_001366901.1:c.*11+1614= NM_001366901.1:c.*11+1614A>G
TSNARE1 transcript NM_145003.3:c.*11+1614= NM_145003.3:c.*11+1614A>G
TSNARE1 transcript variant 1 NM_145003.5:c.*11+1614= NM_145003.5:c.*11+1614A>G
TSNARE1 transcript variant X6 XM_005250832.1:c.*11+1614= XM_005250832.1:c.*11+1614A>G
TSNARE1 transcript variant X7 XM_005250833.1:c.*11+1614= XM_005250833.1:c.*11+1614A>G
TSNARE1 transcript variant X8 XM_005250834.1:c.*11+1614= XM_005250834.1:c.*11+1614A>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#.

40 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17955974 Feb 28, 2004 (120)
2 ABI ss44889325 Mar 14, 2006 (126)
3 AFFY ss66274495 Jul 04, 2010 (132)
4 AFFY ss75925068 Dec 06, 2007 (129)
5 HGSV ss79939125 Dec 16, 2007 (130)
6 KRIBB_YJKIM ss82941066 Dec 14, 2007 (130)
7 HGSV ss83769626 Dec 16, 2007 (130)
8 1000GENOMES ss113948623 Jan 25, 2009 (130)
9 ILLUMINA-UK ss116250144 Feb 14, 2009 (130)
10 ILLUMINA ss160023444 Dec 01, 2009 (131)
11 ENSEMBL ss161620508 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss165877859 Jul 04, 2010 (132)
13 BUSHMAN ss199927956 Jul 04, 2010 (132)
14 1000GENOMES ss224049754 Jul 14, 2010 (132)
15 ILLUMINA ss480159660 Sep 08, 2015 (146)
16 TISHKOFF ss561150160 Apr 25, 2013 (138)
17 JMKIDD_LAB ss1076010441 Aug 21, 2014 (142)
18 1000GENOMES ss1332374999 Aug 21, 2014 (142)
19 EVA_UK10K_ALSPAC ss1621984569 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1664978602 Apr 01, 2015 (144)
21 HAMMER_LAB ss1805817998 Sep 08, 2015 (146)
22 WEILL_CORNELL_DGM ss1929452440 Feb 12, 2016 (147)
23 JJLAB ss2025433285 Sep 14, 2016 (149)
24 HUMAN_LONGEVITY ss2308329160 Dec 20, 2016 (150)
25 GNOMAD ss2873963990 Nov 08, 2017 (151)
26 ILLUMINA ss3636939382 Oct 12, 2018 (152)
27 EVA_DECODE ss3723229909 Jul 13, 2019 (153)
28 KHV_HUMAN_GENOMES ss3811916157 Jul 13, 2019 (153)
29 SGDP_PRJ ss3871240552 Apr 26, 2020 (154)
30 TOPMED ss4808041077 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5191497322 Apr 26, 2021 (155)
32 1000G_HIGH_COVERAGE ss5279339683 Oct 16, 2022 (156)
33 EVA ss5385210368 Oct 16, 2022 (156)
34 HUGCELL_USP ss5475681578 Oct 16, 2022 (156)
35 1000G_HIGH_COVERAGE ss5570873924 Oct 16, 2022 (156)
36 SANFORD_IMAGENETICS ss5646645827 Oct 16, 2022 (156)
37 TOMMO_GENOMICS ss5734367997 Oct 16, 2022 (156)
38 EVA ss5831381666 Oct 16, 2022 (156)
39 EVA ss5891497076 Oct 16, 2022 (156)
40 EVA ss5975910655 Oct 16, 2022 (156)
41 1000Genomes NC_000008.10 - 143309220 Oct 12, 2018 (152)
42 1000Genomes_30x NC_000008.11 - 142227859 Oct 16, 2022 (156)
43 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 143309220 Oct 12, 2018 (152)
44 Chileans NC_000008.10 - 143309220 Apr 26, 2020 (154)
45 gnomAD - Genomes NC_000008.11 - 142227859 Apr 26, 2021 (155)
46 HapMap NC_000008.11 - 142227859 Apr 26, 2020 (154)
47 Qatari NC_000008.10 - 143309220 Apr 26, 2020 (154)
48 SGDP_PRJ NC_000008.10 - 143309220 Apr 26, 2020 (154)
49 8.3KJPN NC_000008.10 - 143309220 Apr 26, 2021 (155)
50 14KJPN NC_000008.11 - 142227859 Oct 16, 2022 (156)
51 TopMed NC_000008.11 - 142227859 Apr 26, 2021 (155)
52 UK 10K study - Twins NC_000008.10 - 143309220 Oct 12, 2018 (152)
53 ALFA NC_000008.11 - 142227859 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)
rs57774667 Feb 27, 2009 (130)
rs61601718 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss75925068, ss79939125, ss83769626, ss113948623, ss116250144, ss160023444, ss165877859, ss199927956 NC_000008.9:143307126:T:C NC_000008.11:142227858:T:C (self)
44588867, 24821142, 450387, 11494370, 23257532, 49466629, 24821142, ss224049754, ss480159660, ss561150160, ss1076010441, ss1332374999, ss1621984569, ss1664978602, ss1805817998, ss1929452440, ss2025433285, ss2873963990, ss3636939382, ss3871240552, ss5191497322, ss5385210368, ss5646645827, ss5831381666, ss5975910655 NC_000008.10:143309219:T:C NC_000008.11:142227858:T:C (self)
58399859, 314369824, 3749692, 68205101, 645418637, 13398988225, ss2308329160, ss3723229909, ss3811916157, ss4808041077, ss5279339683, ss5475681578, ss5570873924, ss5734367997, ss5891497076 NC_000008.11:142227858:T:C NC_000008.11:142227858:T:C (self)
ss44889325, ss82941066, ss161620508 NT_008046.16:56582768:T:C NC_000008.11:142227858:T:C (self)
ss66274495 NT_008046.17:56513636:T:C NC_000008.11:142227858:T:C (self)
ss17955974 NT_028251.11:7763014:T:C NC_000008.11:142227858:T:C (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 rs11984762

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