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rs63749939

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(A;G) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position36996702
GeneMLH1
is asnp
is mentioned by
dbSNPrs63749939
ebirs63749939
HLIrs63749939
Exacrs63749939
Varsomers63749939
Maprs63749939
PheGenIrs63749939
hapmaprs63749939
1000 genomesrs63749939
hgdprs63749939
ensemblrs63749939
gopubmedrs63749939
geneviewrs63749939
scholarrs63749939
googlers63749939
pharmgkbrs63749939
gwascentralrs63749939
openSNPrs63749939
23andMers63749939
23andMe allrs63749939
SNP Nexus

SNPshotrs63749939
SNPdbers63749939
MSV3drs63749939
GWAS Ctlgrs63749939
Merged fromRs121912966
Max Magnitude6

rs63749939 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 19142183OA-icon.png]

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 120436.0029

ClinVar
Risk rs63749939(A;A)
Alt rs63749939(A;A)
Reference rs63749939(G;G)
Significance Pathogenic
Disease Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000003.11:g.37038193G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018641.27, RCV000075482.3, RCV000132445.2, RCV000216147.1,