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rs63750217

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
Position37048955
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750217
ebirs63750217
HLIrs63750217
Exacrs63750217
Varsomers63750217
Maprs63750217
PheGenIrs63750217
hapmaprs63750217
1000 genomesrs63750217
hgdprs63750217
ensemblrs63750217
gopubmedrs63750217
geneviewrs63750217
scholarrs63750217
googlers63750217
pharmgkbrs63750217
gwascentralrs63750217
openSNPrs63750217
23andMers63750217
23andMe allrs63750217
SNP Nexus

SNPshotrs63750217
SNPdbers63750217
MSV3drs63750217
GWAS Ctlgrs63750217
Max Magnitude6

rs63750217 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 16451135]

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 120436.0022

OMIM120436
Desc
Variant0022
Relatedalso


ClinVar
Risk rs63750217(A,C;A,C)
Alt rs63750217(A,C;A,C)
Reference rs63750217(G;G)
Significance Pathogenic
Disease Lynch syndrome II Lynch syndrome not specified Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MLH1
CLNDBN Lynch syndrome II Lynch syndrome not specified Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.37090446G>A; NC_000003.11:g.37090446G>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018632.23, RCV000075495.3, RCV000202172.1, RCV000213700.1, RCV000221566.1,