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dbSNP
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Reference SNP (refSNP) Cluster Report: rs79571896                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:131/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1315/16518 (TOPMED)
HGVS Names
  • CM000663.2:g.281912C>G
  • NC_000001.10:g.251663C>G
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 ss275680127 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs79571896 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
ss139009493ENSEMBL|ENSSNP190613fwd/C/Gtctcaaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggcctttt12/08/0810/16/09131Genomicunknown
ss275680127GMI|GMI_AK_SNP_288fwd/C/Gtctcaaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggcctttt12/16/1012/16/10147Genomicunknown
ss283987263GMI|GMI_NA10851_SNP_29fwd/C/Gtctcaaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggcctttt12/17/1012/17/10147Genomicunknown
ss647515260SSMP|1_251663fwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc12/14/1202/09/15147Genomicunknown
ss12893365581000GENOMES|PHASE3_V1_1170fwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc08/16/1408/16/14147Genomicunknown
ss1917958929WEILL_CORNELL_DGM|SNV:chr1:251663fwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc10/16/1510/16/15147Genomicunknown
ss2019497914JJLAB|SNP469fwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc08/29/1608/30/16149Genomicunknown
ss2697373437GRF|rs201015357fwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc02/13/1702/13/17151Genomicunknown
ss2750616195GNOMAD|rs201015357fwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc05/17/1705/17/17151Genomicunknown
ss2986144426SWEGEN|NC_000001.10:g.251663C>Gfwd/C/Gaaacaacggaatattcatcaaaacaaacagttctgcacttaactttaggc05/30/1705/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs79571896|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 GAAAGCGGAA TTTATCTTCA TATAAACAAC ACTGAGCTAA ATCTCAATAT TTCAGATCTC
 TAGAACTATC CATCAGTGAA ATGGATTGCA AATACAAAGA GTAATACCAT GTCACTTAAG
 AATACAATCA TGGACGAGGC TGCCACCTGC TGTTGGGGGC CACTGCAGAA GAAATTCCAG
 AACACTGGAC TGGAGAGCAC CTCACTTTCC TTACAGCTCT AAGTTTCTGA CTCAGTGACC
 TGATTCACTA CCATATACAC AAAGACCCAC TTACACAAAT GACTGTTCTT CACACTAGGC
 CCATGGAGAC AGGGATAAAA TTCTGAATTT GCTCAGATAC CTTCTCCGCT ACTGACATCT
 AGGCATTACA CAATTCATCT CTTCATATTT AACCTTTGAA GTTTGCTACT TCTCAGAGAG
 ACTAATGAGT AGTGAGCAAA TATCCTGAAG TTGAGAATGC TTCTACCTCC TCTCAAAACA
 ACGGAATATT CATCAAAACA
 S
 AACAGTTCTG CACTTAACTT TAGGCCTTTT CTAACACCTT GTTTCTTGGC AGTAACTGTG
 GCCAGAATAG CTCTTTCCAC AGATAAAGGA CCTTTTGAAA GGATAGGGTC TCTAGATAGA
 AAAGCAAATG CCTCATTCCA GAAGGTCTTC AAGAAGAAAA TGTTGTGGTG ATAACAAACA
 TAACTGATTA TAATCTATTC TGTGAAAAAA GCTTATGAAA CAGTAGATGT GTGTATCTAG
 TACATAAGAG CTGAATGTCA ATATATATAT AGATATATAC ACACACTCAA ATAAATAATA
 GTTATCTCTA ACTAGAGAAA TTCTAGTTGC CTTATATTTT CTTCTTTTTC CTTACTATAT
 TTTCTACAAT AAACATGTGT TTTTAACAAG AAAAGTCTTT TCTGGTGTGC TTTTTAATTT
 TCTTTGTTTA AGTGAGAGTG AGGCTACATA ACTACATGGC TAGGTAGACT TTTAGAAAAC
 TTGACTGCTC TAGAAAATTG

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis

  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.
SourceC/G
HWPC
G
ss1289336558EAS 1008AF 0.723200020.27680001
EUR 1006AF 0.828000010.17199999
AFR 1322AF 0.880500020.11950000
AMR 694AF 0.899100010.10089999
SAS 978AF 0.872200010.12780000
ss139009493ENSEMBL_Venter 2IG1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.500+/-00000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN