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Reference SNP (refSNP) Cluster Report: rs35831931                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:126/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.0012/148 (ExAC)
A=0.0004/2 (1000 Genomes)
A=0.0014/18 (GO-ESP)
A=0.0013/159 (TOPMED)
HGVS Names
  • CM000665.2:g.37050528G>A
  • CM000665.2:g.37050528G>T
  • NC_000003.11:g.37092019G>A
  • NC_000003.12:g.37050528G>A
  • NC_000003.12:g.37050528G>T
  • NG_007109.2:g.62179G>A
  • NG_007109.2:g.62179G>T
  • NM_000249.3:c.2146G>A
  • NM_000249.3:c.2146G>T
  • NM_001167617.1:c.1852G>A
  • NM_001167617.2:c.1852G>A
  • NM_001167617.2:c.1852G>T
  • NM_001167618.1:c.1423G>A
  • NM_001167618.2:c.1423G>A
  • NM_001167618.2:c.1423G>T
  • NM_001167619.1:c.1423G>A
  • NM_001167619.2:c.1423G>A
  • NM_001167619.2:c.1423G>T
  • NM_001258271.1:c.1939G>A
  • NM_001258271.1:c.1939G>T
  • NM_001258273.1:c.1423G>A
  • NM_001258273.1:c.1423G>T
  • NM_001258274.1:c.1423G>A
  • NM_001258274.2:c.1423G>A
  • NM_001258274.2:c.1423G>T
  • NM_001354615.1:c.1423G>A
  • NM_001354615.1:c.1423G>T
  • NM_001354616.1:c.1423G>A
  • NM_001354616.1:c.1423G>T
  • NM_001354617.1:c.1423G>A
  • NM_001354617.1:c.1423G>T
  • NM_001354618.1:c.1423G>A
  • NM_001354618.1:c.1423G>T
  • NM_001354619.1:c.1423G>A
  • NM_001354619.1:c.1423G>T
  • NM_001354620.1:c.1852G>A
  • NM_001354620.1:c.1852G>T
  • NM_001354621.1:c.1123G>A
  • NM_001354621.1:c.1123G>T
  • NM_001354622.1:c.1123G>A
  • NM_001354622.1:c.1123G>T
  • NM_001354623.1:c.1123G>A
  • NM_001354623.1:c.1123G>T
  • NM_001354624.1:c.1072G>A
  • NM_001354624.1:c.1072G>T
  • NM_001354625.1:c.1072G>A
  • NM_001354625.1:c.1072G>T
  • NM_001354626.1:c.1072G>A
  • NM_001354626.1:c.1072G>T
  • NM_001354627.1:c.1072G>A
  • NM_001354627.1:c.1072G>T
  • NM_001354628.1:c.2053G>A
  • NM_001354628.1:c.2053G>T
  • NM_001354629.1:c.2047G>A
  • NM_001354629.1:c.2047G>T
  • NM_001354630.1:c.1981G>A
  • NM_001354630.1:c.1981G>T
  • NP_000240.1:p.Val716Leu
  • NP_000240.1:p.Val716Met
  • NP_001161089.1:p.Val618Leu
  • NP_001161089.1:p.Val618Met
  • NP_001161090.1:p.Val475Leu
  • NP_001161090.1:p.Val475Met
  • NP_001161091.1:p.Val475Leu
  • NP_001161091.1:p.Val475Met
  • NP_001245200.1:p.Val647Leu
  • NP_001245200.1:p.Val647Met
  • NP_001245202.1:p.Val475Leu
  • NP_001245202.1:p.Val475Met
  • NP_001245203.1:p.Val475Leu
  • NP_001245203.1:p.Val475Met
  • NP_001341544.1:p.Val475Leu
  • NP_001341544.1:p.Val475Met
  • NP_001341545.1:p.Val475Leu
  • NP_001341545.1:p.Val475Met
  • NP_001341546.1:p.Val475Leu
  • NP_001341546.1:p.Val475Met
  • NP_001341547.1:p.Val475Leu
  • NP_001341547.1:p.Val475Met
  • NP_001341548.1:p.Val475Leu
  • NP_001341548.1:p.Val475Met
  • NP_001341549.1:p.Val618Leu
  • NP_001341549.1:p.Val618Met
  • NP_001341550.1:p.Val375Leu
  • NP_001341550.1:p.Val375Met
  • NP_001341551.1:p.Val375Leu
  • NP_001341551.1:p.Val375Met
  • NP_001341552.1:p.Val375Leu
  • NP_001341552.1:p.Val375Met
  • NP_001341553.1:p.Val358Leu
  • NP_001341553.1:p.Val358Met
  • NP_001341554.1:p.Val358Leu
  • NP_001341554.1:p.Val358Met
  • NP_001341555.1:p.Val358Leu
  • NP_001341555.1:p.Val358Met
  • NP_001341556.1:p.Val358Leu
  • NP_001341556.1:p.Val358Met
  • NP_001341557.1:p.Val685Leu
  • NP_001341557.1:p.Val685Met
  • NP_001341558.1:p.Val683Leu
  • NP_001341558.1:p.Val683Met
  • NP_001341559.1:p.Val661Leu
  • NP_001341559.1:p.Val661Met
  • XP_005265218.1:p.Val647Leu
  • XP_005265218.1:p.Val647Met
  • XP_005265219.1:p.Val618Met
  • XP_005265220.1:p.Val475Leu
  • XP_005265220.1:p.Val475Met
  • XP_005265221.1:p.Val475Leu
  • XP_005265221.1:p.Val475Met
  • XP_005265222.1:p.Val475Met
  • XP_005265223.1:p.Val375Leu
  • XP_005265223.1:p.Val375Met
  • XP_011532029.1:p.Val358Leu
  • XP_011532029.1:p.Val358Met
  • XP_016861938.1:p.Val375Leu
  • XP_016861938.1:p.Val375Met
  • XP_016861939.1:p.Val375Leu
  • XP_016861939.1:p.Val375Met
  • XP_016861940.1:p.Val358Leu
  • XP_016861940.1:p.Val358Met
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss342119008 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs35831931 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss38347344ADLCLAB|MLH1-NT_022517.17-37032023fwd/TA/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct07/07/0507/07/05126Genomicunknown
ss86343300CANCER-GENOME|27305fwd/TA/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct01/25/0801/25/08130Genomicunknown
ss342119008NHLBI-ESP|ESP2500-chr3-37092019byFreqfwd/TA/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct03/25/1109/05/14134Genomicunknown
ss4561264461000GENOMES|20101123_snps_2293676_chr3_37092019fwd/A/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct07/20/1107/20/11135Genomicunknown
ss4898700741000GENOMES|20110521_exome_368301_chr3_37092019fwd/TA/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct02/10/1202/21/12137Genomicunknown
ss491337037EXOME_CHIP|nonsyn_53264_chr_3_37092019fwd/TA/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct03/05/1203/05/12137Genomicunknown
ss491831062CLINSEQ_SNP|SNV-chr3-37067023byFreqfwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/06/1209/05/14137Genomicunknown
ss538293107MMR_WOODS|MLH1_complex_13fwd/TA/Gggctccattccaaactcctggaagtggacttggaacacattgtctataaagccttgcgct07/31/1210/24/12137Genomicunknown
ss780814598ILLUMINA|HumanOmni25Exome-8v1_A_exm298942-0_B_R_1922245994fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/30/1307/09/15146Genomicunknown
ss783496712ILLUMINA|HumanOmniExpressExome-8v1_A_exm298942-0_B_R_1922245994fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/31/1306/19/15146Genomicunknown
ss978481046EVA-GONL|EVA-GONL_rs35831931fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt04/23/1404/24/14142Genomicunknown
ss13035694351000GENOMES|PHASE3_V1_14817830fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt08/16/1408/16/14142Genomicunknown
ss1587949130EVA_DECODE|EVA_DECODE_3_37067023_326763_rs35831931fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/02/1503/03/15144Genomicunknown
ss1606833918EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_3_37092019_8190856fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/04/1503/04/15144Genomicunknown
ss1649827951EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_3_37092019_8190856fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/04/1503/04/15144Genomicunknown
ss1686921361EVA_EXAC|EVA_EXAC_1835669fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/04/1503/04/15144Genomicunknown
ss1686921362EVA_EXAC|EVA_EXAC_1835670fwd/G/Tcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/04/1503/04/15144Genomicunknown
ss1711011900EVA_MGP|EVA_XIMO_128439fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/09/1503/09/15144Genomicunknown
ss1752467548ILLUMINA|OmniExpressExome-8v1-1_B_exm298942-0_B_R_1922245994fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/27/1506/09/15146Genomicunknown
ss1917764617ILLUMINA|HumanExome-12v1-1_B_exm298942-0_B_R_1922245994fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt10/16/1510/16/15147Genomicunknown
ss1946078831ILLUMINA|HumanCoreExome-12v1-0_C_exm298942-0_B_R_1922245994fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt10/29/1510/29/15147Genomicunknown
ss1958552302ILLUMINA|exm298942-0_B_R_1922245994fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt11/13/1511/13/15147Genomicunknown
ss2021423538JJLAB|SNP1926093fwd/TA/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt08/29/1608/30/16149Genomicunknown
ss2250657140HUMAN_LONGEVITY|HLI-3-37050528-G-Afwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt11/18/1611/18/16150Genomicunknown
ss2417735515TOPMED|3_37092019_G/Afwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt11/19/1611/19/16150Genomicunknown
ss2710970275ILLUMINA|Consortium-OncoArray_15047405_A_chr3_37092019_A_G-100_T_F_219902fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt03/22/1703/22/17151Genomicunknown
ss2733622182GNOMAD|exomes_rs35831931fwd/A/G/Tcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/17/1705/17/17151Genomicunknown
ss2746970022GNOMAD|coding_rs35831931fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/17/1705/17/17151Genomicunknown
ss2791696753GNOMAD|rs35831931fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/18/1705/18/17151Genomicunknown
ss2985251549AFFY|Axiom_PsorMich_Affx-22255861fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/24/1705/24/17151Genomicunknown
ss2992138101SWEGEN|NC_000003.11:g.37092019G>Afwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt05/30/1705/30/17151Genomicunknown
ss3022228153ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm298942-0_B_R_1922245994fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt06/28/1706/28/17151Genomicunknown
ss3344974566CSHL|rs35831931fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt10/02/1710/02/17151Genomicunknown
ss3387644988TOPMED|TOPMed_freeze_5?chr3:37,050,528fwd/A/Gcattccaaactcctggaagtggacttggaacacattgtctataaagcctt10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs35831931|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 GACCTTGTCT CTAAATAAAC AAACAAACAA AAAATCCTCT TGTGTTCAGG CCTGTGGGAT
 CCCCTGAGAG GCTAGCCCAC AAGATCCACT TCAAAAGCCC TAGATAACAC CAAGTCTTTC
 CAGACCCAGT GCACATCCCA TCAGCCAGGA CACCAGTGTA TGTTGGGATG CAAACAGGGA
 GGCTTATGAC ATCTAATGTG TTTTCCAGAG TGAAGTGCCT GGCTCCATTC CAAACTCCTG
 GAAGTGGACT
 D
 TGGAACACAT TGTCTATAAA GCCTTGCGCT CACACATTCT GCCTCCTAAA CATTTCACAG
 AAGATGGAAA TATCCTGCAG CTTGCTAACC TGCCTGATCT ATACAAAGTC TTTGAGAGGT
 GTTAAATATG GTTATTTATG CACTGTGGGA TGTGTTCTTC TTTCTCTGTA TTCCGATACA
 AAGTGTTGTA TCAAAGTGTG ATATACAAAG TGTACCAACA TAAGTGTTGG TAGCACTTAA
 GACTTATACT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517
dbSNP Blast Analysis
3D structure mapping
NP_001161089  NP_001161090  NP_001161091  NP_001245202  NP_001245203  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
T
ss1303569435EAS 1008AF 1.00000000
EUR 1006AF 0.002000000.99799997
AFR 1322AF 1.00000000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1686921361ExAc_Aggregated_Populations121404AF 0.001219070.99878091
ss1686921362ExAc_Aggregated_Populations121260AF 0.999967040.00003299
ss342119008ESP_Cohort_Populations 4548GF 0.001319260.998680711.000000000.000659630.99934036
ss491831062CSAgilent 1321GF 0.005000000.995000001.000000000.002500000.99750000
ss86343300ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.003+/-0.0350000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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