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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.

rs2271761

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:179446717 (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=0.019873 (5826/293162, ALFA)
C=0.065412 (17314/264690, TOPMED)
C=0.031519 (7921/251312, GnomAD_exome) (+ 25 more)
C=0.067332 (9440/140200, GnomAD)
C=0.034048 (4131/121330, ExAC)
C=0.09082 (7147/78698, PAGE_STUDY)
C=0.03192 (902/28256, 14KJPN)
C=0.03222 (540/16760, 8.3KJPN)
C=0.06366 (828/13006, GO-ESP)
C=0.0751 (481/6404, 1000G_30x)
C=0.0709 (355/5008, 1000G)
C=0.0254 (114/4480, Estonian)
C=0.0057 (22/3854, ALSPAC)
C=0.0078 (29/3708, TWINSUK)
C=0.0311 (91/2922, KOREAN)
C=0.0825 (156/1892, HapMap)
C=0.0328 (60/1832, Korea1K)
C=0.0326 (37/1136, Daghestan)
C=0.006 (6/998, GoNL)
C=0.033 (26/792, PRJEB37584)
C=0.011 (7/616, Vietnamese)
C=0.015 (9/600, NorthernSweden)
C=0.011 (6/534, MGP)
C=0.082 (25/304, FINRISK)
C=0.088 (19/216, Qatari)
T=0.50 (38/76, SGDP_PRJ)
C=0.50 (38/76, SGDP_PRJ)
T=0.4 (3/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZNF385B : 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 309666 T=0.977908 C=0.022092
European Sub 257826 T=0.987701 C=0.012299
African Sub 15808 T=0.83103 C=0.16897
African Others Sub 554 T=0.791 C=0.209
African American Sub 15254 T=0.83250 C=0.16750
Asian Sub 6702 T=0.9687 C=0.0313
East Asian Sub 4812 T=0.9665 C=0.0335
Other Asian Sub 1890 T=0.9741 C=0.0259
Latin American 1 Sub 1260 T=0.9429 C=0.0571
Latin American 2 Sub 5404 T=0.9846 C=0.0154
South Asian Sub 362 T=0.961 C=0.039
Other Sub 22304 T=0.97220 C=0.02780


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
Allele Frequency Aggregator Total Global 293162 T=0.980127 C=0.019873
Allele Frequency Aggregator European Sub 247610 T=0.987589 C=0.012411
Allele Frequency Aggregator Other Sub 20854 T=0.97319 C=0.02681
Allele Frequency Aggregator African Sub 10970 T=0.83455 C=0.16545
Allele Frequency Aggregator Asian Sub 6702 T=0.9687 C=0.0313
Allele Frequency Aggregator Latin American 2 Sub 5404 T=0.9846 C=0.0154
Allele Frequency Aggregator Latin American 1 Sub 1260 T=0.9429 C=0.0571
Allele Frequency Aggregator South Asian Sub 362 T=0.961 C=0.039
TopMed Global Study-wide 264690 T=0.934588 C=0.065412
gnomAD - Exomes Global Study-wide 251312 T=0.968481 C=0.031519
gnomAD - Exomes European Sub 135316 T=0.979810 C=0.020190
gnomAD - Exomes Asian Sub 48984 T=0.97362 C=0.02638
gnomAD - Exomes American Sub 34558 T=0.98689 C=0.01311
gnomAD - Exomes African Sub 16244 T=0.82566 C=0.17434
gnomAD - Exomes Ashkenazi Jewish Sub 10074 T=0.95682 C=0.04318
gnomAD - Exomes Other Sub 6136 T=0.9712 C=0.0288
gnomAD - Genomes Global Study-wide 140200 T=0.932668 C=0.067332
gnomAD - Genomes European Sub 75938 T=0.98051 C=0.01949
gnomAD - Genomes African Sub 42000 T=0.82617 C=0.17383
gnomAD - Genomes American Sub 13656 T=0.97444 C=0.02556
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9594 C=0.0406
gnomAD - Genomes East Asian Sub 3130 T=0.9812 C=0.0188
gnomAD - Genomes Other Sub 2154 T=0.9461 C=0.0539
ExAC Global Study-wide 121330 T=0.965952 C=0.034048
ExAC Europe Sub 73320 T=0.98001 C=0.01999
ExAC Asian Sub 25162 T=0.97333 C=0.02667
ExAC American Sub 11574 T=0.98713 C=0.01287
ExAC African Sub 10366 T=0.82616 C=0.17384
ExAC Other Sub 908 T=0.953 C=0.047
The PAGE Study Global Study-wide 78698 T=0.90918 C=0.09082
The PAGE Study AfricanAmerican Sub 32516 T=0.83125 C=0.16875
The PAGE Study Mexican Sub 10810 T=0.98279 C=0.01721
The PAGE Study Asian Sub 8316 T=0.9747 C=0.0253
The PAGE Study PuertoRican Sub 7918 T=0.9399 C=0.0601
The PAGE Study NativeHawaiian Sub 4532 T=0.9905 C=0.0095
The PAGE Study Cuban Sub 4230 T=0.9643 C=0.0357
The PAGE Study Dominican Sub 3828 T=0.9010 C=0.0990
The PAGE Study CentralAmerican Sub 2450 T=0.9673 C=0.0327
The PAGE Study SouthAmerican Sub 1982 T=0.9763 C=0.0237
The PAGE Study NativeAmerican Sub 1260 T=0.9484 C=0.0516
The PAGE Study SouthAsian Sub 856 T=0.973 C=0.027
14KJPN JAPANESE Study-wide 28256 T=0.96808 C=0.03192
8.3KJPN JAPANESE Study-wide 16760 T=0.96778 C=0.03222
GO Exome Sequencing Project Global Study-wide 13006 T=0.93634 C=0.06366
GO Exome Sequencing Project European American Sub 8600 T=0.9895 C=0.0105
GO Exome Sequencing Project African American Sub 4406 T=0.8325 C=0.1675
1000Genomes_30x Global Study-wide 6404 T=0.9249 C=0.0751
1000Genomes_30x African Sub 1786 T=0.7934 C=0.2066
1000Genomes_30x Europe Sub 1266 T=0.9834 C=0.0166
1000Genomes_30x South Asian Sub 1202 T=0.9659 C=0.0341
1000Genomes_30x East Asian Sub 1170 T=0.9761 C=0.0239
1000Genomes_30x American Sub 980 T=0.978 C=0.022
1000Genomes Global Study-wide 5008 T=0.9291 C=0.0709
1000Genomes African Sub 1322 T=0.7988 C=0.2012
1000Genomes East Asian Sub 1008 T=0.9752 C=0.0248
1000Genomes Europe Sub 1006 T=0.9821 C=0.0179
1000Genomes South Asian Sub 978 T=0.969 C=0.031
1000Genomes American Sub 694 T=0.977 C=0.023
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9746 C=0.0254
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9943 C=0.0057
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9922 C=0.0078
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9689 C=0.0311
HapMap Global Study-wide 1892 T=0.9175 C=0.0825
HapMap American Sub 770 T=0.957 C=0.043
HapMap African Sub 692 T=0.835 C=0.165
HapMap Asian Sub 254 T=0.972 C=0.028
HapMap Europe Sub 176 T=0.989 C=0.011
Korean Genome Project KOREAN Study-wide 1832 T=0.9672 C=0.0328
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.9674 C=0.0326
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.967 C=0.033
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.944 C=0.056
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.984 C=0.016
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.981 C=0.019
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.99 C=0.01
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.92 C=0.08
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.994 C=0.006
CNV burdens in cranial meningiomas Global Study-wide 792 T=0.967 C=0.033
CNV burdens in cranial meningiomas CRM Sub 792 T=0.967 C=0.033
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.989 C=0.011
Northern Sweden ACPOP Study-wide 600 T=0.985 C=0.015
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.989 C=0.011
FINRISK Finnish from FINRISK project Study-wide 304 T=0.918 C=0.082
Qatari Global Study-wide 216 T=0.912 C=0.088
SGDP_PRJ Global Study-wide 76 T=0.50 C=0.50
Siberian Global Study-wide 8 T=0.4 C=0.6
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 2 NC_000002.12:g.179446717T>C
GRCh37.p13 chr 2 NC_000002.11:g.180311444T>C
Gene: ZNF385B, zinc finger protein 385B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF385B transcript variant 2 NM_001113397.2:c.496A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 2 NP_001106868.1:p.Ser166Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 13 NM_001352815.1:c.418A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 3 NP_001339744.1:p.Ser140Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 15 NM_001352817.1:c.328A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 9 NP_001339746.1:p.Ser110Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 1 NM_152520.6:c.769A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 1 NP_689733.4:p.Ser257Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 14 NM_001352816.2:c.382A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 8 NP_001339745.1:p.Ser128Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 6 NM_001352808.2:c.769A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 1 NP_001339737.1:p.Ser257Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 8 NM_001352810.2:c.850A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 5 NP_001339739.1:p.Ser284Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 7 NM_001352809.2:c.907A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 4 NP_001339738.1:p.Ser303Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 10 NM_001352812.2:c.520A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 7 NP_001339741.1:p.Ser174Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 12 NM_001352814.2:c.418A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 3 NP_001339743.1:p.Ser140Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 9 NM_001352811.2:c.808A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 6 NP_001339740.1:p.Ser270Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 3 NM_001113398.3:c.418A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 3 NP_001106869.1:p.Ser140Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 11 NM_001352813.2:c.418A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 3 NP_001339742.1:p.Ser140Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 4 NM_001282725.3:c.418A>G S [AGT] > G [GGT] Coding Sequence Variant
zinc finger protein 385B isoform 3 NP_001269654.1:p.Ser140Gly S (Ser) > G (Gly) Missense Variant
ZNF385B transcript variant 21 NR_148059.1:n.963A>G N/A Non Coding Transcript Variant
ZNF385B transcript variant 19 NR_148057.2:n.1129A>G N/A Non Coding Transcript Variant
ZNF385B transcript variant 17 NR_148055.2:n.498A>G N/A Non Coding Transcript Variant
ZNF385B transcript variant 20 NR_148058.2:n.1474A>G N/A Non Coding Transcript Variant
ZNF385B transcript variant 16 NR_148054.2:n.1272A>G N/A Non Coding Transcript Variant
ZNF385B transcript variant 18 NR_148056.2:n.1435A>G N/A Non Coding Transcript Variant
ZNF385B transcript variant 5 NR_104234.2:n.999A>G 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= C
GRCh38.p14 chr 2 NC_000002.12:g.179446717= NC_000002.12:g.179446717T>C
GRCh37.p13 chr 2 NC_000002.11:g.180311444= NC_000002.11:g.180311444T>C
ZNF385B transcript variant 1 NM_152520.6:c.769= NM_152520.6:c.769A>G
ZNF385B transcript variant 1 NM_152520.5:c.769= NM_152520.5:c.769A>G
ZNF385B transcript variant 1 NM_152520.4:c.724= NM_152520.4:c.724A>G
ZNF385B transcript variant 4 NM_001282725.3:c.418= NM_001282725.3:c.418A>G
ZNF385B transcript variant 4 NM_001282725.2:c.418= NM_001282725.2:c.418A>G
ZNF385B transcript variant 4 NM_001282725.1:c.418= NM_001282725.1:c.418A>G
ZNF385B transcript variant 3 NM_001113398.3:c.418= NM_001113398.3:c.418A>G
ZNF385B transcript variant 3 NM_001113398.2:c.418= NM_001113398.2:c.418A>G
ZNF385B transcript variant 3 NM_001113398.1:c.418= NM_001113398.1:c.418A>G
ZNF385B transcript variant 7 NM_001352809.2:c.907= NM_001352809.2:c.907A>G
ZNF385B transcript variant 7 NM_001352809.1:c.907= NM_001352809.1:c.907A>G
ZNF385B transcript variant 6 NM_001352808.2:c.769= NM_001352808.2:c.769A>G
ZNF385B transcript variant 6 NM_001352808.1:c.769= NM_001352808.1:c.769A>G
ZNF385B transcript variant 8 NM_001352810.2:c.850= NM_001352810.2:c.850A>G
ZNF385B transcript variant 8 NM_001352810.1:c.850= NM_001352810.1:c.850A>G
ZNF385B transcript variant 9 NM_001352811.2:c.808= NM_001352811.2:c.808A>G
ZNF385B transcript variant 9 NM_001352811.1:c.808= NM_001352811.1:c.808A>G
ZNF385B transcript variant 20 NR_148058.2:n.1474= NR_148058.2:n.1474A>G
ZNF385B transcript variant 20 NR_148058.1:n.1367= NR_148058.1:n.1367A>G
ZNF385B transcript variant 18 NR_148056.2:n.1435= NR_148056.2:n.1435A>G
ZNF385B transcript variant 18 NR_148056.1:n.1328= NR_148056.1:n.1328A>G
ZNF385B transcript variant 14 NM_001352816.2:c.382= NM_001352816.2:c.382A>G
ZNF385B transcript variant 14 NM_001352816.1:c.382= NM_001352816.1:c.382A>G
ZNF385B transcript variant 16 NR_148054.2:n.1272= NR_148054.2:n.1272A>G
ZNF385B transcript variant 16 NR_148054.1:n.1165= NR_148054.1:n.1165A>G
ZNF385B transcript variant 2 NM_001113397.2:c.496= NM_001113397.2:c.496A>G
ZNF385B transcript variant 2 NM_001113397.1:c.496= NM_001113397.1:c.496A>G
ZNF385B transcript variant 19 NR_148057.2:n.1129= NR_148057.2:n.1129A>G
ZNF385B transcript variant 19 NR_148057.1:n.1022= NR_148057.1:n.1022A>G
ZNF385B transcript variant 11 NM_001352813.2:c.418= NM_001352813.2:c.418A>G
ZNF385B transcript variant 11 NM_001352813.1:c.418= NM_001352813.1:c.418A>G
ZNF385B transcript variant 10 NM_001352812.2:c.520= NM_001352812.2:c.520A>G
ZNF385B transcript variant 10 NM_001352812.1:c.520= NM_001352812.1:c.520A>G
ZNF385B transcript variant 12 NM_001352814.2:c.418= NM_001352814.2:c.418A>G
ZNF385B transcript variant 12 NM_001352814.1:c.418= NM_001352814.1:c.418A>G
ZNF385B transcript variant 17 NR_148055.2:n.498= NR_148055.2:n.498A>G
ZNF385B transcript variant 17 NR_148055.1:n.501= NR_148055.1:n.501A>G
ZNF385B transcript variant 5 NR_104234.2:n.999= NR_104234.2:n.999A>G
ZNF385B transcript variant 5 NR_104234.1:n.999= NR_104234.1:n.999A>G
ZNF385B transcript variant 13 NM_001352815.1:c.418= NM_001352815.1:c.418A>G
ZNF385B transcript variant 15 NM_001352817.1:c.328= NM_001352817.1:c.328A>G
ZNF385B transcript variant 21 NR_148059.1:n.963= NR_148059.1:n.963A>G
ZNF385B transcript variant 4 NR_049778.1:n.753= NR_049778.1:n.753A>G
zinc finger protein 385B isoform 1 NP_689733.4:p.Ser257= NP_689733.4:p.Ser257Gly
zinc finger protein 385B isoform 3 NP_001269654.1:p.Ser140= NP_001269654.1:p.Ser140Gly
zinc finger protein 385B isoform 3 NP_001106869.1:p.Ser140= NP_001106869.1:p.Ser140Gly
zinc finger protein 385B isoform 4 NP_001339738.1:p.Ser303= NP_001339738.1:p.Ser303Gly
zinc finger protein 385B isoform 1 NP_001339737.1:p.Ser257= NP_001339737.1:p.Ser257Gly
zinc finger protein 385B isoform 5 NP_001339739.1:p.Ser284= NP_001339739.1:p.Ser284Gly
zinc finger protein 385B isoform 6 NP_001339740.1:p.Ser270= NP_001339740.1:p.Ser270Gly
zinc finger protein 385B isoform 8 NP_001339745.1:p.Ser128= NP_001339745.1:p.Ser128Gly
zinc finger protein 385B isoform 2 NP_001106868.1:p.Ser166= NP_001106868.1:p.Ser166Gly
zinc finger protein 385B isoform 3 NP_001339742.1:p.Ser140= NP_001339742.1:p.Ser140Gly
zinc finger protein 385B isoform 7 NP_001339741.1:p.Ser174= NP_001339741.1:p.Ser174Gly
zinc finger protein 385B isoform 3 NP_001339743.1:p.Ser140= NP_001339743.1:p.Ser140Gly
zinc finger protein 385B isoform 3 NP_001339744.1:p.Ser140= NP_001339744.1:p.Ser140Gly
zinc finger protein 385B isoform 9 NP_001339746.1:p.Ser110= NP_001339746.1:p.Ser110Gly
zinc finger protein 385B isoform 1 NP_689733.3:p.Ser242= NP_689733.3:p.Ser242Gly
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#.

135 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3206668 Sep 28, 2001 (100)
2 BCM_SSAHASNP ss9982639 Jul 11, 2003 (116)
3 PERLEGEN ss23706221 Sep 20, 2004 (123)
4 PERLEGEN ss68836963 May 17, 2007 (127)
5 AFFY ss74807801 Aug 16, 2007 (128)
6 ILLUMINA ss74878327 Dec 06, 2007 (129)
7 CORNELL ss86239640 Mar 23, 2008 (129)
8 1000GENOMES ss111342532 Jan 25, 2009 (130)
9 GMI ss158039106 Dec 01, 2009 (131)
10 SEATTLESEQ ss159703249 Dec 01, 2009 (131)
11 ILLUMINA ss160525096 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss164975805 Jul 04, 2010 (132)
13 ILLUMINA ss173231906 Jul 04, 2010 (132)
14 BUSHMAN ss201441613 Jul 04, 2010 (132)
15 1000GENOMES ss219682775 Jul 14, 2010 (132)
16 1000GENOMES ss238975191 Jul 15, 2010 (132)
17 GMI ss276808947 May 04, 2012 (137)
18 NHLBI-ESP ss342089236 May 09, 2011 (134)
19 ILLUMINA ss479513300 May 04, 2012 (137)
20 ILLUMINA ss480495952 May 04, 2012 (137)
21 ILLUMINA ss480510304 May 04, 2012 (137)
22 ILLUMINA ss481314643 Sep 08, 2015 (146)
23 ILLUMINA ss483967855 May 04, 2012 (137)
24 ILLUMINA ss485045481 May 04, 2012 (137)
25 1000GENOMES ss489842840 May 04, 2012 (137)
26 EXOME_CHIP ss491328460 May 04, 2012 (137)
27 CLINSEQ_SNP ss491796235 May 04, 2012 (137)
28 ILLUMINA ss533051399 Sep 08, 2015 (146)
29 TISHKOFF ss556070051 Apr 25, 2013 (138)
30 SSMP ss649727807 Apr 25, 2013 (138)
31 ILLUMINA ss779072624 Sep 08, 2015 (146)
32 ILLUMINA ss780808117 Sep 08, 2015 (146)
33 ILLUMINA ss781000193 Sep 08, 2015 (146)
34 ILLUMINA ss782968962 Sep 08, 2015 (146)
35 ILLUMINA ss783489842 Sep 08, 2015 (146)
36 ILLUMINA ss832225261 Sep 08, 2015 (146)
37 ILLUMINA ss834536213 Sep 08, 2015 (146)
38 JMKIDD_LAB ss974444826 Aug 21, 2014 (142)
39 EVA-GONL ss977702892 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1067443307 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1069748156 Aug 21, 2014 (142)
42 1000GENOMES ss1300643411 Aug 21, 2014 (142)
43 HAMMER_LAB ss1397313835 Sep 08, 2015 (146)
44 DDI ss1428837802 Apr 01, 2015 (144)
45 EVA_FINRISK ss1584022595 Apr 01, 2015 (144)
46 EVA_DECODE ss1587143337 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1605264156 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1648258189 Apr 01, 2015 (144)
49 EVA_EXAC ss1686638690 Apr 01, 2015 (144)
50 EVA_MGP ss1710989590 Apr 01, 2015 (144)
51 EVA_SVP ss1712513822 Apr 01, 2015 (144)
52 ILLUMINA ss1752327126 Sep 08, 2015 (146)
53 ILLUMINA ss1752327127 Sep 08, 2015 (146)
54 HAMMER_LAB ss1797997706 Sep 08, 2015 (146)
55 ILLUMINA ss1917757336 Feb 12, 2016 (147)
56 WEILL_CORNELL_DGM ss1920952931 Feb 12, 2016 (147)
57 ILLUMINA ss1946060541 Feb 12, 2016 (147)
58 ILLUMINA ss1958485132 Feb 12, 2016 (147)
59 AMU ss1966654838 Feb 12, 2016 (147)
60 JJLAB ss2021014019 Sep 14, 2016 (149)
61 USC_VALOUEV ss2149080234 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2237023447 Dec 20, 2016 (150)
63 ILLUMINA ss2633712105 Nov 08, 2017 (151)
64 ILLUMINA ss2633712106 Nov 08, 2017 (151)
65 GRF ss2703720518 Nov 08, 2017 (151)
66 GNOMAD ss2733178928 Nov 08, 2017 (151)
67 GNOMAD ss2746835185 Nov 08, 2017 (151)
68 GNOMAD ss2783432387 Nov 08, 2017 (151)
69 AFFY ss2985193925 Nov 08, 2017 (151)
70 SWEGEN ss2990955031 Nov 08, 2017 (151)
71 ILLUMINA ss3022046915 Nov 08, 2017 (151)
72 ILLUMINA ss3628235299 Oct 11, 2018 (152)
73 ILLUMINA ss3628235300 Oct 11, 2018 (152)
74 ILLUMINA ss3631673308 Oct 11, 2018 (152)
75 ILLUMINA ss3633226959 Oct 11, 2018 (152)
76 ILLUMINA ss3633939843 Oct 11, 2018 (152)
77 ILLUMINA ss3634802039 Oct 11, 2018 (152)
78 ILLUMINA ss3634802040 Oct 11, 2018 (152)
79 ILLUMINA ss3635625444 Oct 11, 2018 (152)
80 ILLUMINA ss3636490996 Oct 11, 2018 (152)
81 ILLUMINA ss3637377439 Oct 11, 2018 (152)
82 ILLUMINA ss3638305441 Oct 11, 2018 (152)
83 ILLUMINA ss3640509338 Oct 11, 2018 (152)
84 ILLUMINA ss3640509339 Oct 11, 2018 (152)
85 ILLUMINA ss3643271151 Oct 11, 2018 (152)
86 ILLUMINA ss3644763193 Oct 11, 2018 (152)
87 OMUKHERJEE_ADBS ss3646275843 Oct 11, 2018 (152)
88 ILLUMINA ss3652491659 Oct 11, 2018 (152)
89 ILLUMINA ss3653961061 Oct 11, 2018 (152)
90 EGCUT_WGS ss3658830207 Jul 13, 2019 (153)
91 EVA_DECODE ss3705532647 Jul 13, 2019 (153)
92 ILLUMINA ss3725851633 Jul 13, 2019 (153)
93 ACPOP ss3729156380 Jul 13, 2019 (153)
94 ILLUMINA ss3744484442 Jul 13, 2019 (153)
95 ILLUMINA ss3745101887 Jul 13, 2019 (153)
96 ILLUMINA ss3745101888 Jul 13, 2019 (153)
97 EVA ss3757787366 Jul 13, 2019 (153)
98 PAGE_CC ss3770969848 Jul 13, 2019 (153)
99 ILLUMINA ss3772598446 Jul 13, 2019 (153)
100 ILLUMINA ss3772598447 Jul 13, 2019 (153)
101 KHV_HUMAN_GENOMES ss3802145406 Jul 13, 2019 (153)
102 EVA ss3823835157 Apr 25, 2020 (154)
103 EVA ss3825614491 Apr 25, 2020 (154)
104 EVA ss3827381889 Apr 25, 2020 (154)
105 SGDP_PRJ ss3854087440 Apr 25, 2020 (154)
106 KRGDB ss3899737974 Apr 25, 2020 (154)
107 KOGIC ss3949608582 Apr 25, 2020 (154)
108 FSA-LAB ss3984196026 Apr 27, 2021 (155)
109 FSA-LAB ss3984196027 Apr 27, 2021 (155)
110 EVA ss3984494510 Apr 27, 2021 (155)
111 EVA ss3986206905 Apr 27, 2021 (155)
112 EVA ss4017037331 Apr 27, 2021 (155)
113 TOPMED ss4535623972 Apr 27, 2021 (155)
114 TOMMO_GENOMICS ss5155365116 Apr 27, 2021 (155)
115 EVA ss5236976448 Apr 27, 2021 (155)
116 EVA ss5237307909 Apr 27, 2021 (155)
117 EVA ss5237637474 Oct 12, 2022 (156)
118 1000G_HIGH_COVERAGE ss5251157362 Oct 12, 2022 (156)
119 EVA ss5314792402 Oct 12, 2022 (156)
120 EVA ss5334440005 Oct 12, 2022 (156)
121 HUGCELL_USP ss5450860996 Oct 12, 2022 (156)
122 EVA ss5506708280 Oct 12, 2022 (156)
123 1000G_HIGH_COVERAGE ss5528036879 Oct 12, 2022 (156)
124 SANFORD_IMAGENETICS ss5624465837 Oct 12, 2022 (156)
125 SANFORD_IMAGENETICS ss5630462794 Oct 12, 2022 (156)
126 TOMMO_GENOMICS ss5685920740 Oct 12, 2022 (156)
127 EVA ss5799554188 Oct 12, 2022 (156)
128 YY_MCH ss5803014349 Oct 12, 2022 (156)
129 EVA ss5821254075 Oct 12, 2022 (156)
130 EVA ss5847201417 Oct 12, 2022 (156)
131 EVA ss5847894802 Oct 12, 2022 (156)
132 EVA ss5848529798 Oct 12, 2022 (156)
133 EVA ss5933698500 Oct 12, 2022 (156)
134 EVA ss5956694768 Oct 12, 2022 (156)
135 EVA ss5979592389 Oct 12, 2022 (156)
136 1000Genomes NC_000002.11 - 180311444 Oct 11, 2018 (152)
137 1000Genomes_30x NC_000002.12 - 179446717 Oct 12, 2022 (156)
138 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 180311444 Oct 11, 2018 (152)
139 Genome-wide autozygosity in Daghestan NC_000002.10 - 180019689 Apr 25, 2020 (154)
140 Genetic variation in the Estonian population NC_000002.11 - 180311444 Oct 11, 2018 (152)
141 ExAC NC_000002.11 - 180311444 Oct 11, 2018 (152)
142 FINRISK NC_000002.11 - 180311444 Apr 25, 2020 (154)
143 gnomAD - Genomes NC_000002.12 - 179446717 Apr 27, 2021 (155)
144 gnomAD - Exomes NC_000002.11 - 180311444 Jul 13, 2019 (153)
145 GO Exome Sequencing Project NC_000002.11 - 180311444 Oct 11, 2018 (152)
146 Genome of the Netherlands Release 5 NC_000002.11 - 180311444 Apr 25, 2020 (154)
147 HapMap NC_000002.12 - 179446717 Apr 25, 2020 (154)
148 KOREAN population from KRGDB NC_000002.11 - 180311444 Apr 25, 2020 (154)
149 Korean Genome Project NC_000002.12 - 179446717 Apr 25, 2020 (154)
150 Medical Genome Project healthy controls from Spanish population NC_000002.11 - 180311444 Apr 25, 2020 (154)
151 Northern Sweden NC_000002.11 - 180311444 Jul 13, 2019 (153)
152 The PAGE Study NC_000002.12 - 179446717 Jul 13, 2019 (153)
153 CNV burdens in cranial meningiomas NC_000002.11 - 180311444 Apr 27, 2021 (155)
154 Qatari NC_000002.11 - 180311444 Apr 25, 2020 (154)
155 SGDP_PRJ NC_000002.11 - 180311444 Apr 25, 2020 (154)
156 Siberian NC_000002.11 - 180311444 Apr 25, 2020 (154)
157 8.3KJPN NC_000002.11 - 180311444 Apr 27, 2021 (155)
158 14KJPN NC_000002.12 - 179446717 Oct 12, 2022 (156)
159 TopMed NC_000002.12 - 179446717 Apr 27, 2021 (155)
160 UK 10K study - Twins NC_000002.11 - 180311444 Oct 11, 2018 (152)
161 A Vietnamese Genetic Variation Database NC_000002.11 - 180311444 Jul 13, 2019 (153)
162 ALFA NC_000002.12 - 179446717 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).

Associated ID History Updated (Build)
rs52802430 Sep 21, 2007 (128)
rs117555300 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
263690, ss111342532, ss164975805, ss201441613, ss276808947, ss480495952, ss483967855, ss491796235, ss1397313835, ss1587143337, ss1712513822, ss3643271151 NC_000002.10:180019688:T:C NC_000002.12:179446716:T:C (self)
11709447, 6467517, 4568455, 6535129, 19056, 2240492, 293588, 2841654, 6915368, 106129, 2441245, 43845, 2994861, 6104420, 1596588, 13334423, 6467517, 1408059, ss219682775, ss238975191, ss342089236, ss479513300, ss480510304, ss481314643, ss485045481, ss489842840, ss491328460, ss533051399, ss556070051, ss649727807, ss779072624, ss780808117, ss781000193, ss782968962, ss783489842, ss832225261, ss834536213, ss974444826, ss977702892, ss1067443307, ss1069748156, ss1300643411, ss1428837802, ss1584022595, ss1605264156, ss1648258189, ss1686638690, ss1710989590, ss1752327126, ss1752327127, ss1797997706, ss1917757336, ss1920952931, ss1946060541, ss1958485132, ss1966654838, ss2021014019, ss2149080234, ss2633712105, ss2633712106, ss2703720518, ss2733178928, ss2746835185, ss2783432387, ss2985193925, ss2990955031, ss3022046915, ss3628235299, ss3628235300, ss3631673308, ss3633226959, ss3633939843, ss3634802039, ss3634802040, ss3635625444, ss3636490996, ss3637377439, ss3638305441, ss3640509338, ss3640509339, ss3644763193, ss3646275843, ss3652491659, ss3653961061, ss3658830207, ss3729156380, ss3744484442, ss3745101887, ss3745101888, ss3757787366, ss3772598446, ss3772598447, ss3823835157, ss3825614491, ss3827381889, ss3854087440, ss3899737974, ss3984196026, ss3984196027, ss3984494510, ss3986206905, ss4017037331, ss5155365116, ss5237307909, ss5314792402, ss5334440005, ss5506708280, ss5624465837, ss5630462794, ss5799554188, ss5821254075, ss5847201417, ss5847894802, ss5848529798, ss5956694768, ss5979592389 NC_000002.11:180311443:T:C NC_000002.12:179446716:T:C (self)
15562814, 83445596, 1960558, 5986583, 191317, 19757844, 339446851, 9726822951, ss2237023447, ss3705532647, ss3725851633, ss3770969848, ss3802145406, ss3949608582, ss4535623972, ss5236976448, ss5237637474, ss5251157362, ss5450860996, ss5528036879, ss5685920740, ss5803014349, ss5933698500 NC_000002.12:179446716:T:C NC_000002.12:179446716:T:C (self)
ss9982639 NT_005403.13:30470780:T:C NC_000002.12:179446716:T:C (self)
ss3206668, ss23706221, ss68836963, ss74807801, ss74878327, ss86239640, ss158039106, ss159703249, ss160525096, ss173231906 NT_005403.17:30520861:T:C NC_000002.12:179446716: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 rs2271761

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