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Reference SNP (refSNP) Cluster Report: rs267608275                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:136/150
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Allele
Variation Class:DIV:
deletion/insertion variation
RefSNP Alleles:-/G (FWD)
Allele Origin:-:germline
G:unknown
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:-=0.0313/157 (1000 Genomes)
HGVS Names
  • NC_000022.10:g.42526051delG
  • NC_000022.11:g.42130049delG
  • NG_008376.3:g.4943delC
  • NM_000106.5:c.181-140delC
  • NM_001025161.2:c.181-140delC
  • NT_187682.1:g.52390delG
  • NW_004504305.1:g.52376delG
  • NW_009646208.1:g.15615delG
  • NW_014040931.1:g.23638delG
  • NW_015148968.1:g.7790delG
  • XM_005278353.1:c.181-140delC
  • XM_005278354.1:c.-811delC
  • XM_011529966.2:c.181-140delC
  • XM_011529968.2:c.181-140delC
  • XM_011529970.2:c.181-140delC
  • XM_011529972.2:c.181-140delC
  • XM_011547756.2:c.-71-62delG
  • XR_001755560.1:n.95-62delG
  • XR_001755562.1:n.95-62delG
  • XR_001755563.1:n.95-62delG
  • XR_001755566.1:n.19+1169delG
  • XR_001755568.1:n.-822delG
  • XR_001756649.1:n.94-62delG
  • XR_001756650.1:n.94-62delG
  • XR_001756654.1:n.94-62delG
  • XR_001756655.1:n.94-62delG
  • XR_001756656.1:n.17+1169delG
  • XR_001756657.1:n.-822delG
  • XR_001756694.1:n.94-62delG
  • XR_001756695.1:n.94-62delG
  • XR_001756696.1:n.94-62delG
  • XR_001756698.1:n.258+1169delG
  • XR_001756840.1:n.94-62delG
  • XR_001756954.1:n.94-62delG
  • XR_001756957.1:n.147delG
  • XR_001756959.1:n.-160delG
  • XR_001756961.1:n.18+1169delG
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 ss538296096 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs267608275 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
ss538296096CMH_GENOMICS|741 C>delfwd/-/Gtggaaggaggagacccagcctcctgatcctgggcgggggtgggggtcacaccttctgtga08/08/1208/08/12137Genomicunknown
ss555040911TISHKOFF|del_chr22_42526054-42526054fwd/-/Gggagacccagcctcctgatcctgggcgggggtgggggtcacaccttctgt11/22/1211/23/12138Genomicunknown
ss13790762861000GENOMES|PHASE3_V1_81235110byFreqfwd/-/Gggaggagacccagcctcctgatcctgggcgggggtgggggtcacaccttc08/16/1408/07/15142Genomicunknown
ss1538394024CLINVAR|SCV000196726rev/-/Ctcacagaaggtgtgacccccacccccgcccaggatcaggaggctgggtctcctccttcca01/21/1501/21/15136Genomicunknown
ss1712297549CMH_GENOMICS|744 C>delfwd/-/Gtggaaggaggagacccagcctcctgatcgtgggcgggggtgggggtcacaccttctgtga08/08/1203/11/15142Genomicunknown
ss1809806584HAMMER_LAB|Hsieh_8838683fwd/-/Gggaggagacccagcctcctgatcctgggcgggggtgggggtcacaccttc07/15/1507/16/15146Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs267608275|allelePos=51|totalLen=101|taxid=9606|snpclass=2|alleles='-/G'|mol=Genomic|build=146
 GGCTACCAGG AGTGAGCAGG TGGAAGGAGG AGACCCAGCC TCCTGATCCT
 N
 GGGCGGGGGT GGGGGTCACA CCTTCTGTGA TGGAGGAACT CAGTTTGGAT

  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 AscertainmentGenotypesAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceHWP-
G
ss1379076286EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.117200000.88280004
AMR 694AF 0.002900000.99710006
SAS 978AF 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.061+/-0.1630000

  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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