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Reference SNP (refSNP) Cluster Report: rs199926237                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:137/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.0004/44 (ExAC)
T=0.0012/6 (1000 Genomes)
T=0.0015/19 (GO-ESP)
T=0.0014/180 (TOPMED)
HGVS Names
  • CM000663.2:g.935749C>T
  • NC_000001.10:g.871129C>T
  • NC_000001.11:g.935749C>T
  • NM_152486.2:c.306-23C>T
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 ss487561417 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs199926237 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
ss4875614171000GENOMES|20110521_exome_11_chr1_871129fwd/BC/Tctccagcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagccaggacg02/10/1202/13/12137Genomicunknown
ss712260255NHLBI-ESP|ESP6500SI-chr1-871129fwd/BC/Tctccagcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagccaggacg02/20/1302/20/13138Genomicunknown
ss12893427731000GENOMES|PHASE3_V1_7685fwd/C/Tgcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagcca08/16/1408/16/14142Genomicunknown
ss1685217384EVA_EXAC|EXAC_0.3.1:g871129c>tfwd/C/Tgcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagcca03/04/1503/04/15144Genomicunknown
ss2159371167HUMAN_LONGEVITY|HLI-1-935749-C-Tfwd/C/Tgcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagcca11/18/1611/18/16150Genomicunknown
ss2730987042GNOMAD|exomes_rs199926237fwd/C/Tgcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagcca05/17/1705/17/17151Genomicunknown
ss2746169497GNOMAD|coding_rs199926237fwd/C/Tgcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagcca05/17/1705/17/17151Genomicunknown
ss2750650033GNOMAD|rs199926237fwd/C/Tgcctcgcagctgcccacggggtcagttttcccggtctcgttctgcagcca05/17/1705/17/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs199926237|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GTCCCAGGTC CCAGTGCCAG GTTCTGTGTC GCTTTGACTC GGGTGCTGCG TGGGTGTGCA
 CACAGTGGCG TCACGGGCCA CATGCCGAGG CGTGGGCACA GCAACGTGGC ACTCAGAGGT
 CATCCCCACG CTCACACACA GAGCTAGGCA CTCCCTGTGC CCAGGCTGGG CTCCAGCCTC
 GCAGCTGCCC ACGGGGTCAG
 Y
 TTTTCCCGGT CTCGTTCTGC AGCCAGGACG GCAACCTTCC CACCCTCATA TCCAGCGTCC
 ACCGCAGCCG CCACCTCGTT ATGCCCGAGC ATCAGAGCCG CTGTGAATTC CAGAGAGGCA
 GCCTGGAGAT TGGCCTGCGA CCCGCCGGTG AGGAGCACAG GGGGCCTGAG GGCGGGGTCG
 GGGCTGTGGG GCCAGAGGAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000001
dbSNP Blast Analysis

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

Sample AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWPC
T
ss1289342773EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.995500030.00450000
AMR 694AF 1.00000000
SAS 978AF 1.00000000
ss1685217384ExAc_Aggregated_Populations121400AF 0.999637540.00036244

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0190000

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