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rs63749811

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(-;G) 4 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(G;G) 0 common in clinvar
(I;I) 0
ReferenceGRCh38 38.1/141
Chromosome2
Position47476474
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749811
ebirs63749811
HLIrs63749811
Exacrs63749811
Varsomers63749811
Maprs63749811
PheGenIrs63749811
hapmaprs63749811
1000 genomesrs63749811
hgdprs63749811
ensemblrs63749811
gopubmedrs63749811
geneviewrs63749811
scholarrs63749811
googlers63749811
pharmgkbrs63749811
gwascentralrs63749811
openSNPrs63749811
23andMers63749811
23andMe allrs63749811
SNP Nexus

SNPshotrs63749811
SNPdbers63749811
MSV3drs63749811
GWAS Ctlgrs63749811
Max Magnitude5

rs63749811 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 8723682]

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 609309.0008

ClinVar
Risk rs63749811(;)
Alt rs63749811(;)
Reference rs63749811(G;G)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47703613delG
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001830.2, RCV000030250.3, RCV000223638.1,



[PMID 8872463] Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.


[PMID 10080150] Reduction in hMSH2 mRNA levels by premature translation termination: implications for mutation screening in hereditary nonpolyposis colorectal cancer.


[PMID 16142001] Value of microsatellite instability typing in detecting hereditary non-polyposis colorectal cancer. A prospective multicentric study by the Association Aquitaine Gastro.