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rs63750198

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 4 possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(A;C) 3 possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position37014509
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750198
ebirs63750198
HLIrs63750198
Exacrs63750198
Varsomers63750198
Maprs63750198
PheGenIrs63750198
hapmaprs63750198
1000 genomesrs63750198
hgdprs63750198
ensemblrs63750198
gopubmedrs63750198
geneviewrs63750198
scholarrs63750198
googlers63750198
pharmgkbrs63750198
gwascentralrs63750198
openSNPrs63750198
23andMers63750198
23andMe allrs63750198
SNP Nexus

SNPshotrs63750198
SNPdbers63750198
MSV3drs63750198
GWAS Ctlgrs63750198
Merged fromRs121912956
Max Magnitude4

rs63750198 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 8128251] The connection between this SNP and Lynch syndrome seems a bit tenous, though, as there are not a lot of publications to confirm it.

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 120436.0001

ClinVar
Risk rs63750198(A;A)
Alt rs63750198(A;A)
Reference rs63750198(C;C)
Significance Pathogenic
Disease Lynch syndrome II Hereditary cancer-predisposing syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.37056000C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018607.27, RCV000130936.2,