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rs63751612

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(G;G) 5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position37047520
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751612
ebirs63751612
HLIrs63751612
Exacrs63751612
Varsomers63751612
Maprs63751612
PheGenIrs63751612
hapmaprs63751612
1000 genomesrs63751612
hgdprs63751612
ensemblrs63751612
gopubmedrs63751612
geneviewrs63751612
scholarrs63751612
googlers63751612
pharmgkbrs63751612
gwascentralrs63751612
openSNPrs63751612
23andMers63751612
23andMe allrs63751612
SNP Nexus

SNPshotrs63751612
SNPdbers63751612
MSV3drs63751612
GWAS Ctlgrs63751612
Merged fromRs121912960
Max Magnitude5

rs63751612 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 10598809]

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 120436.0013

ClinVar
Risk rs63751612(G;G)
Alt rs63751612(G;G)
Reference rs63751612(A;A)
Significance Probable-non-pathogenic
Disease Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Reversed 0
HGVS NC_000003.11:g.37089011A>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018621.30, RCV000075342.3, RCV000163055.1, RCV000222490.1,