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Reference SNP (refSNP) Cluster Report: rs137852637                 ** With Uncertain significance allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:133/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreq
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:C:germline
T:germline
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Uncertain significance allele [ClinVar]
MAF/MinorAlleleCount:A=0.00003/3 (ExAC)
A=0.00008/1 (GO-ESP)
A=0.00002/3 (TOPMED)
HGVS Names
  • CM000663.2:g.119753304G>A
  • NC_000001.10:g.120295927G>A
  • NC_000001.11:g.119753304G>A
  • NG_013348.1:g.20629C>T
  • NM_001166107.1:c.1144C>T
  • NM_005518.3:c.1270C>T
  • NP_001159579.1:p.Arg382Ter
  • NP_005509.1:p.Arg424Ter
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 ss289481274 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs137852637 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
ss289481274OMIM-CURATED-RECORDS|9097fwd/BC/Ttctggtttagcagcaagtttcttttcatttgagtatcccaggatgctgctccaggtgagt01/06/1101/06/11133Genomicunknown
ss341985960NHLBI-ESP|ESP2500-chr1-120295927rev/TA/Gactcacctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaaccaga03/25/1103/25/11134Genomicunknown
ss1685718961EVA_EXAC|EVA_EXAC_540610rev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa03/04/1503/04/15144Genomicunknown
ss2166193636HUMAN_LONGEVITY|HLI-1-119753304-G-Arev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa11/18/1611/18/16150Genomicunknown
ss2731761388GNOMAD|exomes_rs137852637rev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa05/17/1705/17/17151Genomicunknown
ss2746408595GNOMAD|coding_rs137852637rev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa05/17/1705/17/17151Genomicunknown
ss2760226818GNOMAD|rs137852637rev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa05/17/1705/17/17151Genomicunknown
ss2984872902AFFY|Axiom_PsorMich_Affx-80213346rev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa05/24/1705/24/17151Genomicunknown
ss3088339633TOPMED|TOPMed_freeze_5?chr1:119,753,304rev/A/Gcctggagcagcatcctgggatactcaaatgaaaagaaacttgctgctaaa09/28/1709/28/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs137852637|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GGGTGCCTGG AACCCATTTC TAGTTGCATG AGGTAGACAG GGAGAAGATC GGGATGATAG
 GCTGTTGTTC TATTTGAAGT GCAGAATATA ATATATATAT ACATATATGT GTGTGTGTGT
 GTGTGTGTGT GTGTGTGTGT GTGTTTTATT TGATTTCTTT CCCCACAGCC ACTCTGCCCA
 AGAACTGGCT GGCTCCAGGA TTGGTGCCTT CTCTTATGGC TCTGGTTTAG CAGCAAGTTT
 CTTTTCATTT
 Y
 GAGTATCCCA GGATGCTGCT CCAGGTGAGT GTCATCTTTC TAGTAGGCCT TCCTGACAAG
 ATTCATCTGG TAGAATAACC ATCTTCTTCC CCACCATTAC TGAGGCTGCC ATCTTGACAG
 AGTTACGTTA TTATTAATAG CAAAGTAAAT CACTGAAGGG ATTTAAGCAT GGAGTAAGTT
 TGTTTAATTT ATGTGTTTAA AGCACTTATT TGGCTACTAC TTAGAGACTA GATTGAAAAG
 GAACAAAGCT

  NCBI Resource Links back to top
Submitter-Referenced
dbSNP Blast Analysis
OMIM
600234.0002

  Population Diversity (Alleles in RefSNP orientation) Note: rs137852637 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1685718961ExAc_Aggregated_Populations121408AF 0.999975260.00002471
ss341985960ESP_Cohort_Populations 4550GF0.999560420.00043956 1.000000000.999780240.00021978

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.000+/-0.0050000

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

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