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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.

rs2521276

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:2309747 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.114950 (30426/264690, TOPMED)
T=0.101834 (14261/140042, GnomAD)
C=0.39631 (11199/28258, 14KJPN) (+ 14 more)
T=0.07958 (1491/18736, ALFA)
C=0.39175 (6565/16758, 8.3KJPN)
T=0.2049 (1312/6404, 1000G_30x)
T=0.2161 (1082/5008, 1000G)
T=0.0946 (424/4480, Estonian)
T=0.0631 (243/3854, ALSPAC)
T=0.0599 (222/3708, TWINSUK)
C=0.3576 (1047/2928, KOREAN)
C=0.3842 (703/1830, Korea1K)
T=0.107 (64/600, NorthernSweden)
T=0.165 (82/498, SGDP_PRJ)
T=0.144 (31/216, Qatari)
T=0.17 (7/42, Siberian)
T=0.07 (3/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TSPAN32 : Missense 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 18736 T=0.07958 A=0.00000, C=0.92042
European Sub 17084 T=0.07159 A=0.00000, C=0.92841
African Sub 334 T=0.075 A=0.000, C=0.925
African Others Sub 16 T=0.00 A=0.00, C=1.00
African American Sub 318 T=0.079 A=0.000, C=0.921
Asian Sub 48 T=0.79 A=0.00, C=0.21
East Asian Sub 40 T=0.78 A=0.00, C=0.23
Other Asian Sub 8 T=0.9 A=0.0, C=0.1
Latin American 1 Sub 14 T=0.36 A=0.00, C=0.64
Latin American 2 Sub 110 T=0.364 A=0.000, C=0.636
South Asian Sub 20 T=0.25 A=0.00, C=0.75
Other Sub 1126 T=0.1377 A=0.0000, C=0.8623


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=0.114950 C=0.885050
gnomAD - Genomes Global Study-wide 140042 T=0.101834 C=0.898166
gnomAD - Genomes European Sub 75846 T=0.07729 C=0.92271
gnomAD - Genomes African Sub 41958 T=0.07024 C=0.92976
gnomAD - Genomes American Sub 13644 T=0.21101 C=0.78899
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.1280 C=0.8720
gnomAD - Genomes East Asian Sub 3126 T=0.6017 C=0.3983
gnomAD - Genomes Other Sub 2148 T=0.1243 C=0.8757
14KJPN JAPANESE Study-wide 28258 T=0.60369 C=0.39631
Allele Frequency Aggregator Total Global 18736 T=0.07958 A=0.00000, C=0.92042
Allele Frequency Aggregator European Sub 17084 T=0.07159 A=0.00000, C=0.92841
Allele Frequency Aggregator Other Sub 1126 T=0.1377 A=0.0000, C=0.8623
Allele Frequency Aggregator African Sub 334 T=0.075 A=0.000, C=0.925
Allele Frequency Aggregator Latin American 2 Sub 110 T=0.364 A=0.000, C=0.636
Allele Frequency Aggregator Asian Sub 48 T=0.79 A=0.00, C=0.21
Allele Frequency Aggregator South Asian Sub 20 T=0.25 A=0.00, C=0.75
Allele Frequency Aggregator Latin American 1 Sub 14 T=0.36 A=0.00, C=0.64
8.3KJPN JAPANESE Study-wide 16758 T=0.60825 C=0.39175
1000Genomes_30x Global Study-wide 6404 T=0.2049 C=0.7951
1000Genomes_30x African Sub 1786 T=0.0694 C=0.9306
1000Genomes_30x Europe Sub 1266 T=0.0592 C=0.9408
1000Genomes_30x South Asian Sub 1202 T=0.1689 C=0.8311
1000Genomes_30x East Asian Sub 1170 T=0.6179 C=0.3821
1000Genomes_30x American Sub 980 T=0.191 C=0.809
1000Genomes Global Study-wide 5008 T=0.2161 C=0.7839
1000Genomes African Sub 1322 T=0.0726 C=0.9274
1000Genomes East Asian Sub 1008 T=0.6181 C=0.3819
1000Genomes Europe Sub 1006 T=0.0656 C=0.9344
1000Genomes South Asian Sub 978 T=0.167 C=0.833
1000Genomes American Sub 694 T=0.193 C=0.807
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.0946 C=0.9054
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.0631 C=0.9369
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.0599 C=0.9401
KOREAN population from KRGDB KOREAN Study-wide 2928 T=0.6424 C=0.3576
Korean Genome Project KOREAN Study-wide 1830 T=0.6158 C=0.3842
Northern Sweden ACPOP Study-wide 600 T=0.107 C=0.893
SGDP_PRJ Global Study-wide 498 T=0.165 C=0.835
Qatari Global Study-wide 216 T=0.144 C=0.856
Siberian Global Study-wide 42 T=0.17 C=0.83
The Danish reference pan genome Danish Study-wide 40 T=0.07 C=0.93
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 11 NC_000011.10:g.2309747T>A
GRCh38.p14 chr 11 NC_000011.10:g.2309747T>C
GRCh37.p13 chr 11 NC_000011.9:g.2330977T>A
GRCh37.p13 chr 11 NC_000011.9:g.2330977T>C
Gene: TSPAN32, tetraspanin 32 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TSPAN32 transcript NM_139022.3:c.354+937T>A N/A Intron Variant
TSPAN32 transcript variant X2 XM_005252719.5:c.459+937T…

XM_005252719.5:c.459+937T>A

 		N/A Intron Variant
TSPAN32 transcript variant X15 XM_005252720.5:c.459+937T…

XM_005252720.5:c.459+937T>A

 		N/A Intron Variant
TSPAN32 transcript variant X5 XM_011519815.4:c.385-3907…

XM_011519815.4:c.385-3907T>A

 		N/A Intron Variant
TSPAN32 transcript variant X6 XM_011519818.4:c.385-3907…

XM_011519818.4:c.385-3907T>A

 		N/A Intron Variant
TSPAN32 transcript variant X7 XM_011519819.2:c.264+937T…

XM_011519819.2:c.264+937T>A

 		N/A Intron Variant
TSPAN32 transcript variant X14 XM_011519822.2:c.459+937T…

XM_011519822.2:c.459+937T>A

 		N/A Intron Variant
TSPAN32 transcript variant X8 XM_047426209.1:c.264+937T…

XM_047426209.1:c.264+937T>A

 		N/A Intron Variant
TSPAN32 transcript variant X17 XM_047426212.1:c.385-3907…

XM_047426212.1:c.385-3907T>A

 		N/A Intron Variant
TSPAN32 transcript variant X21 XM_047426215.1:c.459+937T…

XM_047426215.1:c.459+937T>A

 		N/A Intron Variant
TSPAN32 transcript variant X1 XM_017017064.2:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X1 XP_016872553.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X1 XM_017017064.2:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X1 XP_016872553.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X3 XM_017017065.2:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X3 XP_016872554.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X3 XM_017017065.2:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X3 XP_016872554.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X4 XM_017017066.2:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X4 XP_016872555.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X4 XM_017017066.2:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X4 XP_016872555.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X9 XM_017017068.2:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X8 XP_016872557.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X9 XM_017017068.2:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X8 XP_016872557.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X10 XM_047426210.1:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X9 XP_047282166.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X10 XM_047426210.1:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X9 XP_047282166.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X11 XM_017017069.2:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X10 XP_016872558.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X11 XM_017017069.2:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X10 XP_016872558.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X16 XM_047426211.1:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X13 XP_047282167.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X16 XM_047426211.1:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X13 XP_047282167.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X18 XM_047426213.1:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X15 XP_047282169.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X18 XM_047426213.1:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X15 XP_047282169.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X19 XM_017017071.2:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X15 XP_016872560.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X19 XM_017017071.2:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X15 XP_016872560.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X20 XM_047426214.1:c.59T>A L [CTG] > Q [CAG] Coding Sequence Variant
tetraspanin-32 isoform X15 XP_047282170.1:p.Leu20Gln L (Leu) > Q (Gln) Missense Variant
TSPAN32 transcript variant X20 XM_047426214.1:c.59T>C L [CTG] > P [CCG] Coding Sequence Variant
tetraspanin-32 isoform X15 XP_047282170.1:p.Leu20Pro L (Leu) > P (Pro) Missense Variant
TSPAN32 transcript variant X12 XR_001747716.1:n.503T>A N/A Non Coding Transcript Variant
TSPAN32 transcript variant X12 XR_001747716.1:n.503T>C N/A Non Coding Transcript Variant
TSPAN32 transcript variant X13 XR_001747715.2:n.503T>A N/A Non Coding Transcript Variant
TSPAN32 transcript variant X13 XR_001747715.2:n.503T>C N/A Non Coding 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= A C
GRCh38.p14 chr 11 NC_000011.10:g.2309747= NC_000011.10:g.2309747T>A NC_000011.10:g.2309747T>C
GRCh37.p13 chr 11 NC_000011.9:g.2330977= NC_000011.9:g.2330977T>A NC_000011.9:g.2330977T>C
TSPAN32 transcript variant X1 XM_017017064.2:c.59= XM_017017064.2:c.59T>A XM_017017064.2:c.59T>C
TSPAN32 transcript variant X1 XM_017017064.1:c.59= XM_017017064.1:c.59T>A XM_017017064.1:c.59T>C
TSPAN32 transcript variant X4 XM_017017066.2:c.59= XM_017017066.2:c.59T>A XM_017017066.2:c.59T>C
TSPAN32 transcript variant X4 XM_017017066.1:c.59= XM_017017066.1:c.59T>A XM_017017066.1:c.59T>C
TSPAN32 transcript variant X11 XM_017017069.2:c.59= XM_017017069.2:c.59T>A XM_017017069.2:c.59T>C
TSPAN32 transcript variant X11 XM_017017069.1:c.59= XM_017017069.1:c.59T>A XM_017017069.1:c.59T>C
TSPAN32 transcript variant X3 XM_017017065.2:c.59= XM_017017065.2:c.59T>A XM_017017065.2:c.59T>C
TSPAN32 transcript variant X3 XM_017017065.1:c.59= XM_017017065.1:c.59T>A XM_017017065.1:c.59T>C
TSPAN32 transcript variant X9 XM_017017068.2:c.59= XM_017017068.2:c.59T>A XM_017017068.2:c.59T>C
TSPAN32 transcript variant X9 XM_017017068.1:c.59= XM_017017068.1:c.59T>A XM_017017068.1:c.59T>C
TSPAN32 transcript variant X13 XR_001747715.2:n.503= XR_001747715.2:n.503T>A XR_001747715.2:n.503T>C
TSPAN32 transcript variant X12 XR_001747715.1:n.503= XR_001747715.1:n.503T>A XR_001747715.1:n.503T>C
TSPAN32 transcript variant X19 XM_017017071.2:c.59= XM_017017071.2:c.59T>A XM_017017071.2:c.59T>C
TSPAN32 transcript variant X16 XM_017017071.1:c.59= XM_017017071.1:c.59T>A XM_017017071.1:c.59T>C
TSPAN32 transcript variant X18 XM_047426213.1:c.59= XM_047426213.1:c.59T>A XM_047426213.1:c.59T>C
TSPAN32 transcript variant X16 XM_047426211.1:c.59= XM_047426211.1:c.59T>A XM_047426211.1:c.59T>C
TSPAN32 transcript variant X12 XR_001747716.1:n.503= XR_001747716.1:n.503T>A XR_001747716.1:n.503T>C
TSPAN32 transcript variant X10 XM_047426210.1:c.59= XM_047426210.1:c.59T>A XM_047426210.1:c.59T>C
TSPAN32 transcript variant X20 XM_047426214.1:c.59= XM_047426214.1:c.59T>A XM_047426214.1:c.59T>C
tetraspanin-32 isoform X1 XP_016872553.1:p.Leu20= XP_016872553.1:p.Leu20Gln XP_016872553.1:p.Leu20Pro
tetraspanin-32 isoform X4 XP_016872555.1:p.Leu20= XP_016872555.1:p.Leu20Gln XP_016872555.1:p.Leu20Pro
tetraspanin-32 isoform X10 XP_016872558.1:p.Leu20= XP_016872558.1:p.Leu20Gln XP_016872558.1:p.Leu20Pro
tetraspanin-32 isoform X3 XP_016872554.1:p.Leu20= XP_016872554.1:p.Leu20Gln XP_016872554.1:p.Leu20Pro
tetraspanin-32 isoform X8 XP_016872557.1:p.Leu20= XP_016872557.1:p.Leu20Gln XP_016872557.1:p.Leu20Pro
tetraspanin-32 isoform X15 XP_016872560.1:p.Leu20= XP_016872560.1:p.Leu20Gln XP_016872560.1:p.Leu20Pro
tetraspanin-32 isoform X15 XP_047282169.1:p.Leu20= XP_047282169.1:p.Leu20Gln XP_047282169.1:p.Leu20Pro
tetraspanin-32 isoform X13 XP_047282167.1:p.Leu20= XP_047282167.1:p.Leu20Gln XP_047282167.1:p.Leu20Pro
tetraspanin-32 isoform X9 XP_047282166.1:p.Leu20= XP_047282166.1:p.Leu20Gln XP_047282166.1:p.Leu20Pro
tetraspanin-32 isoform X15 XP_047282170.1:p.Leu20= XP_047282170.1:p.Leu20Gln XP_047282170.1:p.Leu20Pro
TSPAN32 transcript NM_139022.2:c.354+937= NM_139022.2:c.354+937T>A NM_139022.2:c.354+937T>C
TSPAN32 transcript NM_139022.3:c.354+937= NM_139022.3:c.354+937T>A NM_139022.3:c.354+937T>C
TSPAN32 transcript variant X1 XM_005252719.1:c.459+937= XM_005252719.1:c.459+937T>A XM_005252719.1:c.459+937T>C
TSPAN32 transcript variant X2 XM_005252719.5:c.459+937= XM_005252719.5:c.459+937T>A XM_005252719.5:c.459+937T>C
TSPAN32 transcript variant X2 XM_005252720.1:c.459+937= XM_005252720.1:c.459+937T>A XM_005252720.1:c.459+937T>C
TSPAN32 transcript variant X15 XM_005252720.5:c.459+937= XM_005252720.5:c.459+937T>A XM_005252720.5:c.459+937T>C
TSPAN32 transcript variant X3 XM_005252721.1:c.385-3907= XM_005252721.1:c.385-3907T>A XM_005252721.1:c.385-3907T>C
TSPAN32 transcript variant X5 XM_011519815.4:c.385-3907= XM_011519815.4:c.385-3907T>A XM_011519815.4:c.385-3907T>C
TSPAN32 transcript variant X6 XM_011519818.4:c.385-3907= XM_011519818.4:c.385-3907T>A XM_011519818.4:c.385-3907T>C
TSPAN32 transcript variant X7 XM_011519819.2:c.264+937= XM_011519819.2:c.264+937T>A XM_011519819.2:c.264+937T>C
TSPAN32 transcript variant X14 XM_011519822.2:c.459+937= XM_011519822.2:c.459+937T>A XM_011519822.2:c.459+937T>C
TSPAN32 transcript variant X8 XM_047426209.1:c.264+937= XM_047426209.1:c.264+937T>A XM_047426209.1:c.264+937T>C
TSPAN32 transcript variant X17 XM_047426212.1:c.385-3907= XM_047426212.1:c.385-3907T>A XM_047426212.1:c.385-3907T>C
TSPAN32 transcript variant X21 XM_047426215.1:c.459+937= XM_047426215.1:c.459+937T>A XM_047426215.1:c.459+937T>C
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#.

90 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3533730 Sep 28, 2001 (100)
2 YUSUKE ss4968126 Aug 28, 2002 (108)
3 TSC-CSHL ss5299598 Oct 08, 2002 (108)
4 BCM_SSAHASNP ss10646572 Jul 11, 2003 (116)
5 SSAHASNP ss20746435 Apr 05, 2004 (121)
6 ABI ss38660965 Mar 14, 2006 (126)
7 HGSV ss78227959 Dec 07, 2007 (129)
8 BCMHGSC_JDW ss88431014 Mar 23, 2008 (129)
9 HUMANGENOME_JCVI ss97356208 Feb 05, 2009 (130)
10 1000GENOMES ss109911231 Jan 24, 2009 (130)
11 1000GENOMES ss114097187 Jan 25, 2009 (130)
12 ILLUMINA-UK ss118450097 Feb 14, 2009 (130)
13 ENSEMBL ss132236081 Dec 01, 2009 (131)
14 ENSEMBL ss137777335 Dec 01, 2009 (131)
15 GMI ss155822574 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss167651068 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss168865263 Jul 04, 2010 (132)
18 BUSHMAN ss202300184 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207898256 Jul 04, 2010 (132)
20 1000GENOMES ss225051834 Jul 14, 2010 (132)
21 1000GENOMES ss235416237 Jul 15, 2010 (132)
22 1000GENOMES ss242076584 Jul 15, 2010 (132)
23 BL ss254824756 May 09, 2011 (134)
24 GMI ss280853103 May 04, 2012 (137)
25 GMI ss286300645 Apr 25, 2013 (138)
26 PJP ss291031732 May 09, 2011 (134)
27 ILLUMINA ss482798337 May 04, 2012 (137)
28 ILLUMINA ss483855131 May 04, 2012 (137)
29 ILLUMINA ss536050704 Sep 08, 2015 (146)
30 TISHKOFF ss562337169 Apr 25, 2013 (138)
31 SSMP ss657667844 Apr 25, 2013 (138)
32 ILLUMINA ss780433666 Sep 08, 2015 (146)
33 ILLUMINA ss782371161 Sep 08, 2015 (146)
34 ILLUMINA ss835923190 Sep 08, 2015 (146)
35 EVA-GONL ss988131244 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1077446562 Aug 21, 2014 (142)
37 1000GENOMES ss1339839878 Aug 21, 2014 (142)
38 DDI ss1426509708 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1575476285 Apr 01, 2015 (144)
40 EVA_DECODE ss1597809625 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1625850176 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1668844209 Apr 01, 2015 (144)
43 HAMMER_LAB ss1806659934 Sep 08, 2015 (146)
44 WEILL_CORNELL_DGM ss1931493189 Feb 12, 2016 (147)
45 GENOMED ss1967272945 Jul 19, 2016 (147)
46 JJLAB ss2026486909 Sep 14, 2016 (149)
47 USC_VALOUEV ss2154774293 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2179660705 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2627712558 Nov 08, 2017 (151)
50 ILLUMINA ss2632791010 Nov 08, 2017 (151)
51 GRF ss2699040094 Nov 08, 2017 (151)
52 GNOMAD ss2895555896 Nov 08, 2017 (151)
53 SWEGEN ss3007477159 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3027035873 Nov 08, 2017 (151)
55 CSHL ss3349414942 Nov 08, 2017 (151)
56 ILLUMINA ss3626582056 Oct 12, 2018 (152)
57 ILLUMINA ss3630811064 Oct 12, 2018 (152)
58 ILLUMINA ss3641715380 Oct 12, 2018 (152)
59 URBANLAB ss3649513996 Oct 12, 2018 (152)
60 EGCUT_WGS ss3674883316 Jul 13, 2019 (153)
61 EVA_DECODE ss3691078915 Jul 13, 2019 (153)
62 ACPOP ss3737855806 Jul 13, 2019 (153)
63 EVA ss3748856542 Jul 13, 2019 (153)
64 PACBIO ss3786843583 Jul 13, 2019 (153)
65 PACBIO ss3791999970 Jul 13, 2019 (153)
66 PACBIO ss3796882147 Jul 13, 2019 (153)
67 KHV_HUMAN_GENOMES ss3814203827 Jul 13, 2019 (153)
68 EVA ss3832438030 Apr 26, 2020 (154)
69 EVA ss3839761451 Apr 26, 2020 (154)
70 EVA ss3845237319 Apr 26, 2020 (154)
71 SGDP_PRJ ss3875489612 Apr 26, 2020 (154)
72 KRGDB ss3923712567 Apr 26, 2020 (154)
73 KOGIC ss3969069153 Apr 26, 2020 (154)
74 TOPMED ss4872907779 Apr 26, 2021 (155)
75 TOMMO_GENOMICS ss5200373003 Apr 26, 2021 (155)
76 1000G_HIGH_COVERAGE ss5286157065 Oct 16, 2022 (156)
77 EVA ss5315520493 Oct 16, 2022 (156)
78 EVA ss5397306781 Oct 16, 2022 (156)
79 HUGCELL_USP ss5481498280 Oct 16, 2022 (156)
80 EVA ss5510228724 Oct 16, 2022 (156)
81 1000G_HIGH_COVERAGE ss5581160718 Oct 16, 2022 (156)
82 SANFORD_IMAGENETICS ss5650489727 Oct 16, 2022 (156)
83 TOMMO_GENOMICS ss5747040179 Oct 16, 2022 (156)
84 EVA ss5800164987 Oct 16, 2022 (156)
85 YY_MCH ss5812064154 Oct 16, 2022 (156)
86 EVA ss5836163190 Oct 16, 2022 (156)
87 EVA ss5849828144 Oct 16, 2022 (156)
88 EVA ss5918559910 Oct 16, 2022 (156)
89 EVA ss5941799651 Oct 16, 2022 (156)
90 EVA ss5980654228 Oct 16, 2022 (156)
91 1000Genomes NC_000011.9 - 2330977 Oct 12, 2018 (152)
92 1000Genomes_30x NC_000011.10 - 2309747 Oct 16, 2022 (156)
93 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 2330977 Oct 12, 2018 (152)
94 Genetic variation in the Estonian population NC_000011.9 - 2330977 Oct 12, 2018 (152)
95 The Danish reference pan genome NC_000011.9 - 2330977 Apr 26, 2020 (154)
96 gnomAD - Genomes NC_000011.10 - 2309747 Apr 26, 2021 (155)
97 KOREAN population from KRGDB NC_000011.9 - 2330977 Apr 26, 2020 (154)
98 Korean Genome Project NC_000011.10 - 2309747 Apr 26, 2020 (154)
99 Northern Sweden NC_000011.9 - 2330977 Jul 13, 2019 (153)
100 Qatari NC_000011.9 - 2330977 Apr 26, 2020 (154)
101 SGDP_PRJ NC_000011.9 - 2330977 Apr 26, 2020 (154)
102 Siberian NC_000011.9 - 2330977 Apr 26, 2020 (154)
103 8.3KJPN NC_000011.9 - 2330977 Apr 26, 2021 (155)
104 14KJPN NC_000011.10 - 2309747 Oct 16, 2022 (156)
105 TopMed NC_000011.10 - 2309747 Apr 26, 2021 (155)
106 UK 10K study - Twins NC_000011.9 - 2330977 Oct 12, 2018 (152)
107 ALFA NC_000011.10 - 2309747 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)
rs3782058 Oct 09, 2002 (108)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
868008226 NC_000011.10:2309746:T:A NC_000011.10:2309746:T:A (self)
ss78227959, ss88431014, ss109911231, ss114097187, ss118450097, ss167651068, ss168865263, ss202300184, ss207898256, ss254824756, ss280853103, ss286300645, ss291031732, ss482798337, ss1597809625 NC_000011.8:2287552:T:C NC_000011.10:2309746:T:C (self)
52313038, 29062776, 20621564, 2410652, 30889961, 11140671, 13535119, 27506592, 7290647, 58342310, 29062776, ss225051834, ss235416237, ss242076584, ss483855131, ss536050704, ss562337169, ss657667844, ss780433666, ss782371161, ss835923190, ss988131244, ss1077446562, ss1339839878, ss1426509708, ss1575476285, ss1625850176, ss1668844209, ss1806659934, ss1931493189, ss1967272945, ss2026486909, ss2154774293, ss2627712558, ss2632791010, ss2699040094, ss2895555896, ss3007477159, ss3349414942, ss3626582056, ss3630811064, ss3641715380, ss3674883316, ss3737855806, ss3748856542, ss3786843583, ss3791999970, ss3796882147, ss3832438030, ss3839761451, ss3875489612, ss3923712567, ss5200373003, ss5315520493, ss5397306781, ss5510228724, ss5650489727, ss5800164987, ss5836163190, ss5941799651, ss5980654228 NC_000011.9:2330976:T:C NC_000011.10:2309746:T:C (self)
68686653, 369432445, 25447154, 80877283, 88453435, 868008226, ss2179660705, ss3027035873, ss3649513996, ss3691078915, ss3814203827, ss3845237319, ss3969069153, ss4872907779, ss5286157065, ss5481498280, ss5581160718, ss5747040179, ss5812064154, ss5849828144, ss5918559910 NC_000011.10:2309746:T:C NC_000011.10:2309746:T:C (self)
ss20746435 NT_009237.16:1094916:T:C NC_000011.10:2309746:T:C (self)
ss3533730, ss4968126, ss5299598, ss38660965, ss97356208, ss132236081, ss137777335, ss155822574 NT_009237.18:2270976:T:C NC_000011.10:2309746:T:C (self)
ss10646572 NT_028310.10:1091399:T:C NC_000011.10:2309746: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 rs2521276

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