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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.

rs1491326936

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:46966929-46966931 (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
dupCT
Variation Type
Indel Insertion and Deletion
Frequency
dupCT=0.000223 (59/264690, TOPMED)
dupCT=0.000178 (25/140292, GnomAD)
dupCT=0.00021 (3/14050, ALFA) (+ 1 more)
dupCT=0.0003 (2/6404, 1000G_30x)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GOSR2 : Non Coding Transcript Variant
LRRC37A2 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 14050 TCT=0.99979 TCTCT=0.00021 0.999573 0.0 0.000427 0
European Sub 9690 TCT=1.0000 TCTCT=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 TCT=0.9993 TCTCT=0.0007 0.99862 0.0 0.00138 0
African Others Sub 114 TCT=1.000 TCTCT=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 TCT=0.9993 TCTCT=0.0007 0.998563 0.0 0.001437 0
Asian Sub 112 TCT=1.000 TCTCT=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 TCT=1.00 TCTCT=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 TCT=1.00 TCTCT=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 TCT=1.000 TCTCT=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 TCT=1.000 TCTCT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 TCT=1.00 TCTCT=0.00 1.0 0.0 0.0 N/A
Other Sub 496 TCT=0.998 TCTCT=0.002 0.995968 0.0 0.004032 0


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 -

No frequency provided

 dupCT=0.000223
gnomAD - Genomes Global Study-wide 140292 -

No frequency provided

 dupCT=0.000178
gnomAD - Genomes European Sub 75964 -

No frequency provided

 dupCT=0.00000
gnomAD - Genomes African Sub 42062 -

No frequency provided

 dupCT=0.00057
gnomAD - Genomes American Sub 13658 -

No frequency provided

 dupCT=0.00007
gnomAD - Genomes Ashkenazi Jewish Sub 3322 -

No frequency provided

 dupCT=0.0000
gnomAD - Genomes East Asian Sub 3134 -

No frequency provided

 dupCT=0.0000
gnomAD - Genomes Other Sub 2152 -

No frequency provided

 dupCT=0.0000
Allele Frequency Aggregator Total Global 14050 TCT=0.99979 dupCT=0.00021
Allele Frequency Aggregator European Sub 9690 TCT=1.0000 dupCT=0.0000
Allele Frequency Aggregator African Sub 2898 TCT=0.9993 dupCT=0.0007
Allele Frequency Aggregator Latin American 2 Sub 610 TCT=1.000 dupCT=0.000
Allele Frequency Aggregator Other Sub 496 TCT=0.998 dupCT=0.002
Allele Frequency Aggregator Latin American 1 Sub 146 TCT=1.000 dupCT=0.000
Allele Frequency Aggregator Asian Sub 112 TCT=1.000 dupCT=0.000
Allele Frequency Aggregator South Asian Sub 98 TCT=1.00 dupCT=0.00
1000Genomes_30x Global Study-wide 6404 -

No frequency provided

 dupCT=0.0003
1000Genomes_30x African Sub 1786 -

No frequency provided

 dupCT=0.0011
1000Genomes_30x Europe Sub 1266 -

No frequency provided

 dupCT=0.0000
1000Genomes_30x South Asian Sub 1202 -

No frequency provided

 dupCT=0.0000
1000Genomes_30x East Asian Sub 1170 -

No frequency provided

 dupCT=0.0000
1000Genomes_30x American Sub 980 -

No frequency provided

 dupCT=0.000
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 17 NC_000017.11:g.46966930_46966931dup
GRCh37.p13 chr 17 NC_000017.10:g.45044296_45044297dup
GOSR2 RefSeqGene NG_031806.2:g.48811_48812dup
Gene: GOSR2, golgi SNAP receptor complex member 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GOSR2 transcript variant D NM_001321133.2:c.*205_*20…

NM_001321133.2:c.*205_*207=

 		N/A 3 Prime UTR Variant
GOSR2 transcript variant C NM_001012511.3:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant E NM_001321134.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant F NM_001330252.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant G NM_001353114.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant H NM_001353115.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant I NM_001353116.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant M NM_001363851.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant A NM_004287.5:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant B NM_054022.4:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant J NR_148349.2:n.2218_2219dup N/A Non Coding Transcript Variant
GOSR2 transcript variant K NR_148350.2:n.2077_2078dup N/A Non Coding Transcript Variant
GOSR2 transcript variant L NR_148351.2:n.1568_1569dup N/A Non Coding Transcript Variant
GOSR2 transcript variant X3 XM_017025383.3:c.676+304_…

XM_017025383.3:c.676+304_676+305dup

 		N/A Intron Variant
GOSR2 transcript variant X2 XM_047437116.1:c.676+304_…

XM_047437116.1:c.676+304_676+305dup

 		N/A Intron Variant
GOSR2 transcript variant X1 XM_017025378.2:c.*205_*20…

XM_017025378.2:c.*205_*207=

 		N/A 3 Prime UTR Variant
GOSR2 transcript variant X5 XM_017025386.2:c.*205_*20…

XM_017025386.2:c.*205_*207=

 		N/A 3 Prime UTR Variant
GOSR2 transcript variant X6 XM_017025387.2:c.*205_*20…

XM_017025387.2:c.*205_*207=

 		N/A 3 Prime UTR Variant
GOSR2 transcript variant X4 XM_006722190.5:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X8 XM_011525501.4:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X9 XM_011525502.4:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X21 XM_017025389.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X10 XM_017025392.2:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X12 XM_047437112.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X15 XM_047437113.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X16 XM_047437114.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X17 XM_047437115.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X18 XM_047437117.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X19 XM_047437118.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X7 XM_047437119.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X11 XM_047437120.1:c. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X13 XR_007065552.1:n. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X14 XR_007065553.1:n. N/A Genic Downstream Transcript Variant
GOSR2 transcript variant X20 XR_934616.4:n. N/A Genic Downstream Transcript Variant
Gene: LRRC37A2, leucine rich repeat containing 37 member A2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LRRC37A2 transcript variant 1 NM_001006607.3:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant 2 NM_001385803.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X16 XM_024450773.2:c.4810-821…

XM_024450773.2:c.4810-82126_4810-82125dup

 		N/A Intron Variant
LRRC37A2 transcript variant X1 XM_011524841.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X2 XM_011524842.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X3 XM_011524843.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X4 XM_011524844.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X5 XM_011524846.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X7 XM_011524848.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X9 XM_011524849.3:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X10 XM_011524850.4:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X14 XM_047436141.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X15 XM_047436142.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X6 XM_047436143.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X8 XM_047436144.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X11 XM_047436145.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X17 XM_047436146.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X12 XM_047436147.1:c. N/A Genic Downstream Transcript Variant
LRRC37A2 transcript variant X13 XR_007065300.1: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 TCT= dupCT
GRCh38.p14 chr 17 NC_000017.11:g.46966929_46966931= NC_000017.11:g.46966930_46966931dup
GRCh37.p13 chr 17 NC_000017.10:g.45044295_45044297= NC_000017.10:g.45044296_45044297dup
GOSR2 RefSeqGene NG_031806.2:g.48810_48812= NG_031806.2:g.48811_48812dup
GOSR2 transcript variant J NR_148349.2:n.2217_2219= NR_148349.2:n.2218_2219dup
GOSR2 transcript variant J NR_148349.1:n.2260_2262= NR_148349.1:n.2261_2262dup
GOSR2 transcript variant K NR_148350.2:n.2076_2078= NR_148350.2:n.2077_2078dup
GOSR2 transcript variant K NR_148350.1:n.2119_2121= NR_148350.1:n.2120_2121dup
GOSR2 transcript variant L NR_148351.2:n.1567_1569= NR_148351.2:n.1568_1569dup
GOSR2 transcript variant L NR_148351.1:n.1610_1612= NR_148351.1:n.1611_1612dup
GOSR2 transcript variant D NM_001321133.2:c.*205_*207= NM_001321133.2:c.*206_*207dup
GOSR2 transcript variant D NM_001321133.1:c.*205_*207= NM_001321133.1:c.*206_*207dup
GOSR2 transcript variant X1 XM_017025378.2:c.*205_*207= XM_017025378.2:c.*206_*207dup
GOSR2 transcript variant X1 XM_017025378.1:c.*205_*207= XM_017025378.1:c.*206_*207dup
GOSR2 transcript variant X5 XM_017025386.2:c.*205_*207= XM_017025386.2:c.*206_*207dup
GOSR2 transcript variant X9 XM_017025386.1:c.*205_*207= XM_017025386.1:c.*206_*207dup
GOSR2 transcript variant X6 XM_017025387.2:c.*205_*207= XM_017025387.2:c.*206_*207dup
GOSR2 transcript variant X10 XM_017025387.1:c.*205_*207= XM_017025387.1:c.*206_*207dup
GOSR2 transcript variant X3 XM_017025383.3:c.676+303= XM_017025383.3:c.676+304_676+305dup
LRRC37A2 transcript variant X16 XM_024450773.2:c.4810-82127= XM_024450773.2:c.4810-82126_4810-82125dup
GOSR2 transcript variant X2 XM_047437116.1:c.676+303= XM_047437116.1:c.676+304_676+305dup
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#.

5 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2950215658 Jan 10, 2018 (151)
2 TOPMED ss5036958371 Apr 27, 2021 (155)
3 1000G_HIGH_COVERAGE ss5303236850 Oct 16, 2022 (156)
4 1000G_HIGH_COVERAGE ss5607006199 Oct 16, 2022 (156)
5 EVA ss5914045869 Oct 16, 2022 (156)
6 1000Genomes_30x NC_000017.11 - 46966929 Oct 16, 2022 (156)
7 gnomAD - Genomes NC_000017.11 - 46966929 Apr 27, 2021 (155)
8 TopMed NC_000017.11 - 46966929 Apr 27, 2021 (155)
9 ALFA NC_000017.11 - 46966929 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2950215658 NC_000017.10:45044294::TC NC_000017.11:46966928:TCT:TCTCT (self)
94532134, 508110677, 252504033, ss5036958371, ss5303236850, ss5607006199, ss5914045869 NC_000017.11:46966928::TC NC_000017.11:46966928:TCT:TCTCT (self)
6264373355 NC_000017.11:46966928:TCT:TCTCT NC_000017.11:46966928:TCT:TCTCT (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 rs1491326936

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.post820+afb47a3d