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rs63750451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 hereditary nonpolyposis colorectal cancer (HNPCC4)
(T;T) 5 hereditary nonpolyposis colorectal cancer (HNPCC4)
ReferenceGRCh38 38.1/141
Chromosome7
Position5986883
GenePMS2
is asnp
is mentioned by
dbSNPrs63750451
ebirs63750451
HLIrs63750451
Exacrs63750451
Varsomers63750451
Maprs63750451
PheGenIrs63750451
hapmaprs63750451
1000 genomesrs63750451
hgdprs63750451
ensemblrs63750451
gopubmedrs63750451
geneviewrs63750451
scholarrs63750451
googlers63750451
pharmgkbrs63750451
gwascentralrs63750451
openSNPrs63750451
23andMers63750451
23andMe allrs63750451
SNP Nexus

SNPshotrs63750451
SNPdbers63750451
MSV3drs63750451
GWAS Ctlgrs63750451
Max Magnitude5

rs63750451 is a SNP in the PMS2 gene on chromosome 7, associated with hereditary nonpolyposis colorectal cancer (HNPCC).[PMID 16472587]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

See also OMIM 600259.0009

OMIM600259
Desc
Variant0009
Relatedalso


ClinVar
Risk rs63750451(T;T)
Alt rs63750451(T;T)
Reference rs63750451(C;C)
Significance Pathogenic
Disease Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene PMS2
CLNDBN Hereditary nonpolyposis colorectal cancer type 4 Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 1
HGVS NC_000007.13:g.6026514G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000009823.4, RCV000076834.2, RCV000218575.1, RCV000220439.1,