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Reference SNP (refSNP) Cluster Report: rs146727732                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:134/151
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:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0003/38 (ExAC)
C=0.0004/2 (1000 Genomes)
C=0.0002/24 (TOPMED)
HGVS Names
  • CM000670.2:g.18222449T>C
  • NC_000008.10:g.18079958T>C
  • NC_000008.11:g.18222449T>C
  • NG_012245.2:g.56988T>C
  • NM_000662.7:c.402T>C
  • NM_001160170.3:c.402T>C
  • NM_001160171.3:c.402T>C
  • NM_001160172.3:c.402T>C
  • NM_001160173.3:c.402T>C
  • NM_001160174.2:c.402T>C
  • NM_001160175.3:c.588T>C
  • NM_001160176.3:c.588T>C
  • NM_001160179.2:c.402T>C
  • NM_001291962.1:c.588T>C
  • NP_000653.3:p.Pro134=
  • NP_001153642.1:p.Pro134=
  • NP_001153643.1:p.Pro134=
  • NP_001153644.1:p.Pro134=
  • NP_001153645.1:p.Pro134=
  • NP_001153646.1:p.Pro134=
  • NP_001153647.1:p.Pro196=
  • NP_001153648.1:p.Pro196=
  • NP_001153651.1:p.Pro134=
  • NP_001278891.1:p.Pro196=
  • XP_005273734.1:p.Pro196=
  • XP_005273735.1:p.Pro134=
  • XP_005273736.1:p.Pro134=
  • XP_006716473.1:p.Pro134=
  • XP_011542989.1:p.Pro196=
  • XP_011542990.1:p.Pro196=
  • XP_011542991.1:p.Pro134=
  • XP_016869436.1:p.Pro196=
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 ss254155483 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs146727732 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
ss254155483BL|SNP37202_8_18124238fwd/BC/Tgtttggacgctcataccagatgtggcagccctggagttaatttctgggaaggatcagcct08/19/1008/19/10134Genomicunknown
ss4888833831000GENOMES|20110521_exome_116798_chr8_18079958fwd/BC/Tgtttggacgctcataccagatgtggcagccctggagttaatttctgggaaggatcagcct02/10/1202/13/12137Genomicunknown
ss13288471091000GENOMES|PHASE3_V1_41157948fwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc08/16/1408/16/14142Genomicunknown
ss1689107650EVA_EXAC|EVA_EXAC_4197057fwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc03/04/1503/04/15144Genomicunknown
ss2301150658HUMAN_LONGEVITY|HLI-8-18222449-T-Cfwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc11/18/1611/18/16150Genomicunknown
ss2470808509TOPMED|8_18079958_T/Cfwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc11/20/1611/20/16150Genomicunknown
ss2737016391GNOMAD|exomes_rs146727732fwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc05/17/1705/17/17151Genomicunknown
ss2748005856GNOMAD|coding_rs146727732fwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc05/17/1705/17/17151Genomicunknown
ss2863915031GNOMAD|rs146727732fwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc05/19/1705/19/17151Genomicunknown
ss3555475107TOPMED|TOPMed_freeze_5?chr8:18,222,449fwd/C/Tgacgctcataccagatgtggcagccctggagttaatttctgggaaggatc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs146727732|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GCTTAGAGGC CATTTTTGAT CAAGTTGTGA GAAGAAATCG GGGTGGATGG TGTCTCCAGG
 TCAATCATCT TCTGTACTGG GCTCTGACCA CTATTGGTTT TGAGACCACG ATGTTGGGAG
 GGTATGTTTA CAGCACTCCA GCCAAAAAAT ACAGCACTGG CATGATTCAC CTTCTCCTGC
 AGGTGACCAT TGATGGCAGG AACTACATTG TCGATGCTGG GTTTGGACGC TCATACCAGA
 TGTGGCAGCC
 Y
 CTGGAGTTAA TTTCTGGGAA GGATCAGCCT CAGGTGCCTT GTGTCTTCCG TTTGACGGAA
 GAGAATGGAT TCTGGTATCT AGACCAAATC AGAAGGGAAC AGTACATTCC AAATGAAGAA
 TTTCTTCATT CTGATCTCCT AGAAGACAGC AAATACCGAA AAATCTACTC CTTTACTCTT
 AAGCCTCGAA CAATTGAAGA TTTTGAGTCT ATGAATACAT ACCTGCAGAC ATCTCCATCA
 TCTGTGTTTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000008
dbSNP Blast Analysis
3D structure mapping
NP_000653  NP_001153642  NP_001153643  NP_001153644  NP_001153645  NP_001153646  NP_001153647  NP_001153648  NP_001153651  

  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
ss1328847109EAS 1008AF 1.00000000
EUR 1006AF 1.00000000
AFR 1322AF 0.000800000.99919999
AMR 694AF 1.00000000
SAS 978AF 0.001000000.99899995
ss1689107650ExAc_Aggregated_Populations121412AF 0.000312980.99968702

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.001+/-0.0180000

  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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