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Reference SNP (refSNP) Cluster Report: rs33917087                 ** 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/C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:A=0.0144/1751 (ExAC)
A=0.0076/38 (1000 Genomes)
A=0.0155/201 (GO-ESP)
A=0.0153/1917 (TOPMED)
HGVS Names
  • CM000664.2:g.178770234C>A
  • CM000664.2:g.178770234C>T
  • NC_000002.11:g.179634961C>A
  • NC_000002.12:g.178770234C>A
  • NC_000002.12:g.178770234C>T
  • NG_011618.3:g.65569G>A
  • NG_011618.3:g.65569G>T
  • NM_001256850.1:c.8467G>A
  • NM_001256850.1:c.8467G>T
  • NM_001267550.1:c.8467G>A
  • NM_001267550.1:c.8467G>T
  • NM_001267550.2:c.8467G>A
  • NM_001267550.2:c.8467G>T
  • NM_003319.4:c.8329G>A
  • NM_003319.4:c.8329G>T
  • NM_133378.4:c.8467G>A
  • NM_133378.4:c.8467G>T
  • NM_133379.4:c.8467G>A
  • NM_133379.4:c.8467G>T
  • NM_133432.3:c.8329G>A
  • NM_133432.3:c.8329G>T
  • NM_133437.4:c.8329G>A
  • NM_133437.4:c.8329G>T
  • NP_001243779.1:p.Val2823Ile
  • NP_001243779.1:p.Val2823Phe
  • NP_001254479.1:p.Val2823Ile
  • NP_001254479.1:p.Val2823Phe
  • NP_001254479.2:p.Val2823Ile
  • NP_001254479.2:p.Val2823Phe
  • NP_003310.4:p.Val2777Ile
  • NP_003310.4:p.Val2777Phe
  • NP_596869.4:p.Val2823Ile
  • NP_596869.4:p.Val2823Phe
  • NP_596870.2:p.Val2823Ile
  • NP_596870.2:p.Val2823Phe
  • NP_597676.3:p.Val2777Ile
  • NP_597676.3:p.Val2777Phe
  • NP_597681.4:p.Val2777Ile
  • NP_597681.4:p.Val2777Phe
  • XP_005246885.1:p.Val2824Phe
  • XP_005246886.1:p.Val2824Phe
  • XP_016860308.1:p.Val2824Ile
  • XP_016860308.1:p.Val2824Phe
  • XP_016860309.1:p.Val2824Ile
  • XP_016860309.1:p.Val2824Phe
  • XP_016860310.1:p.Val2823Ile
  • XP_016860310.1:p.Val2823Phe
  • XP_016860311.1:p.Val2824Ile
  • XP_016860311.1:p.Val2824Phe
  • XP_016860312.1:p.Val2824Ile
  • XP_016860312.1:p.Val2824Phe
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 ss44317254 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs33917087 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
ss44317254ABI|hCV1958919byFreqfwd/TA/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc07/18/0511/03/06126Genomicunknown
ss48533774CANCER-GENOME|NC_000002.9_179460467fwd/TA/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc10/20/0511/29/05126Genomicunknown
ss97103618HUMANGENOME_JCVI|1103658302065fwd/TA/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc03/28/0803/28/08130Genomicunknown
ss107937454RSG_UW|TTN-039113byFreqrev/BG/Tgcctttgaagttagtgtttcccatgacactttccagtaaaatggttccataagagtgtgg12/08/0809/05/14130Genomicunknown
ss132879760ENSEMBL|ENSSNP1670785byFreqfwd/TA/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc12/08/0803/07/10131Genomicunknown
ss292434595PJP|SNP_1940953_chr2_179343206fwd/A/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc01/21/1101/21/11134Genomicunknown
ss3301635731000GENOMES|20100804_snps_1807109_chr2_179634961fwd/A/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc03/22/1103/22/11134Genomicunknown
ss342088644NHLBI-ESP|ESP2500-chr2-179634961byFreqfwd/TA/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc03/25/1109/05/14134Genomicunknown
ss491328339EXOME_CHIP|nonsyn_44566_chr_2_179634961fwd/TA/Cccacactcttatggaaccattttactggaaagtgtcatgggaaacactaacttcaaaggc03/05/1203/05/12137Genomicunknown
ss491796078CLINSEQ_SNP|SNV-chr2-179343206byFreqfwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca03/06/1209/05/14137Genomicunknown
ss534884373ILLUMINA|HumanOmni5-4v1_B_kgp24039209-0_B_R_1882369041fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca06/22/1208/28/15146Genomicunknown
ss780808003ILLUMINA|HumanOmni25Exome-8v1_A_exm249200-0_T_F_1918809691fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/30/1307/09/15146Genomicunknown
ss783489727ILLUMINA|HumanOmniExpressExome-8v1_A_exm249200-0_T_F_1918809691fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/31/1306/19/15146Genomicunknown
ss977697630EVA-GONL|EVA-GONL_rs33917087fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca04/23/1404/23/14142Genomicunknown
ss13006238461000GENOMES|PHASE3_V1_11748592fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca08/16/1408/16/14142Genomicunknown
ss1584022547EVA_FINRISK|EVA_FINRISK_rs33917087fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca02/27/1502/27/15144Genomicunknown
ss1587138206EVA_DECODE|EVA_DECODE_2_179343206_1340122_rs33917087fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca03/02/1503/03/15144Genomicunknown
ss1605254003EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_179634961_6456398fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca03/04/1503/04/15144Genomicunknown
ss1648248036EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_179634961_6456398fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca03/04/1503/04/15144Genomicunknown
ss1686635151EVA_EXAC|EVA_EXAC_1527433fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca03/04/1503/04/15144Genomicunknown
ss1710989386EVA_MGP|EVA_XIMO_105925fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca03/09/1503/09/15144Genomicunknown
ss1752326811ILLUMINA|OmniExpressExome-8v1-1_B_exm249200-0_T_F_1918809691fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/27/1506/09/15146Genomicunknown
ss1815616475EVA_MCP|MOLGENIS_CARDIO_PANEL.2:g179634961c>afwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca08/19/1508/19/15146Genomicunknown
ss1917757223ILLUMINA|HumanExome-12v1-1_B_exm249200-0_T_F_1918809691fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca10/16/1510/16/15147Genomicunknown
ss1946060346ILLUMINA|HumanCoreExome-12v1-0_C_exm249200-0_T_F_1918809691fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca10/29/1510/29/15147Genomicunknown
ss1958484675ILLUMINA|exm249200-0_T_F_1918809691fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca11/13/1511/13/15147Genomicunknown
ss1998371873ACHAKRAVARTILAB|SNV:chr2:179634961C>Afwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/20/1605/20/16147Genomicunknown
ss2021011286JJLAB|SNP1513841fwd/TA/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca08/29/1608/30/16149Genomicunknown
ss2149077596USC_VALOUEV|NC_000002.11:g.179634961C>Afwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca11/17/1611/17/16150Genomicunknown
ss2236984122HUMAN_LONGEVITY|HLI-2-178770234-C-Afwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca11/18/1611/18/16150Genomicunknown
ss2403407718TOPMED|2_179634961_C/Afwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca11/19/1611/19/16150Genomicunknown
ss2733173349GNOMAD|exomes_rs33917087fwd/A/C/Tctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/17/1705/17/17151Genomicunknown
ss2746833574GNOMAD|coding_rs33917087fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/17/1705/17/17151Genomicunknown
ss2783376207GNOMAD|rs33917087fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/17/1705/17/17151Genomicunknown
ss2985193726AFFY|Axiom_PsorMich_Affx-18568234fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/24/1705/24/17151Genomicunknown
ss2990946786SWEGEN|NC_000002.11:g.179634961C>Afwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca05/30/1705/30/17151Genomicunknown
ss3022046411ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm249200-0_T_F_1918809691fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca06/28/1706/28/17151Genomicunknown
ss3331553561TOPMED|TOPMed_freeze_5?chr2:178,770,234fwd/A/Cctcttatggaaccattttactggaaagtgtcatgggaaacactaacttca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs33917087|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C/T'|mol=Genomic|build=151
 GTAATGCTTG GTAAAATCAA AGAGCACTTC AGTTAATACA ATTTGTTTAA AAAGTAGATG
 AAACCAAACA AATAGATACA TGGGGTTCAT TAAGGAAAGG GCTGTAGGGG GCTGCCTGAT
 ACTTACTCTC CACAAACAGT TTTGCTTTGC ATTCCAATTG CCCGACCACA GCTGTGTATT
 CCCCAGCATC TGAGGGGGAG ATGTTCTGCA GCATCAGCTT GTGGACTTTC CTTTCTGAGA
 CCAGTCTGTG TTTGTCACTT GGCTTAATTT CCACACTCTT ATGGAACCAT TTTACTGGAA
 H
 AGTGTCATGG GAAACACTAA CTTCAAAGGC AACAGTGGCA TTTTCCAAGG CTGTCACATC
 CTTTGGCTTT TTAATGATCT TGACAGCTAA GAGGAAAATT GGAGCAATTC AGTGATAGGG
 TTAACTTAAT GGTAACCATG GGCTGACTGC TTGAAAAGTG TTTCTAAATC AACTTACTCT
 CCACGTGCAG TCTGGCACTG GCTCCAAGCC TTCCAAGCCT GAAGCCATAA ACAGACTCAT
 CCACGATGGC ACAGTTTTTA ATCCTCAGAG AGTAAATTGT TCCTTTGACA GAGATAGCAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000002.9 ABBA01062248
dbSNP Blast Analysis
3D structure mapping
NP_001243779  NP_596869  

  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/C
C/C
HWPA
C
ss107937454MESTRONI_CLINICAL_PANEL 376AF 0.026595750.97340423
ss1300623846EAS 1008AF 1.00000000
EUR 1006AF 0.017900000.98210001
AFR 1322AF 0.000800000.99919999
AMR 694AF 0.023100000.97690004
SAS 978AF 0.003100000.99690002
ss132879760ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ENSEMBL_celera 6IG0.33333334 0.66666669 0.333333340.66666669
ss1686635151ExAc_Aggregated_Populations121412AF 0.014421970.98557806
ss342088644ESP_Cohort_Populations 4542GF0.000440330.029062090.970497550.527089000.014971380.98502862
ss44317254AoD_Caucasian 92AF 0.040000000.95999998
ss491796078CSAgilent 1323GF 0.047000000.953000011.000000000.023500000.97649997
ss97103618J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.028+/-0.1160000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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