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rs63750899

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(T;T) 4 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048562
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750899
ebirs63750899
HLIrs63750899
Exacrs63750899
Varsomers63750899
Maprs63750899
PheGenIrs63750899
hapmaprs63750899
1000 genomesrs63750899
hgdprs63750899
ensemblrs63750899
gopubmedrs63750899
geneviewrs63750899
scholarrs63750899
googlers63750899
pharmgkbrs63750899
gwascentralrs63750899
openSNPrs63750899
23andMers63750899
23andMe allrs63750899
SNP Nexus

SNPshotrs63750899
SNPdbers63750899
MSV3drs63750899
GWAS Ctlgrs63750899
Max Magnitude4

rs63750899 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 15139004]

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 120436.0020

OMIM120436
Desc
Variant0020
Relatedalso


ClinVar
Risk rs63750899(T;T)
Alt rs63750899(T;T)
Reference rs63750899(C;C)
Significance Pathogenic
Disease Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.37090053C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018629.24, RCV000018630.28, RCV000075432.2, RCV000162472.1,