rs63750198

plus

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

Reference

GRCh38 38.1/141

Chromosome

3

Position

37014509

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750198
dbSNP (classic)	rs63750198
ClinGen	rs63750198
ebi	rs63750198
HLI	rs63750198
Exac	rs63750198
Gnomad	rs63750198
Varsome	rs63750198
LitVar	rs63750198
Map	rs63750198
PheGenI	rs63750198
Biobank	rs63750198
1000 genomes	rs63750198
hgdp	rs63750198
ensembl	rs63750198
geneview	rs63750198
scholar	rs63750198
google	rs63750198
pharmgkb	rs63750198
gwascentral	rs63750198
openSNP	rs63750198
23andMe	rs63750198
SNPshot	rs63750198
SNPdbe	rs63750198
MSV3d	rs63750198
GWAS Ctlg	rs63750198

Merged from

Rs121912956

Max Magnitude

4

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 23788249 ]

See also OMIM 120436.0001

ClinVar
Risk	Rs63750198(A;A) rs63750198(T;T)
Alt	Rs63750198(A;A) rs63750198(T;T)
Reference	Rs63750198(C;C)
Significance	Pathogenic
Disease	Lynch syndrome II Hereditary cancer-predisposing syndrome Lynch syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome II Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed	0
HGVS	NC_000003.11:g.37056000C>A; NC_000003.11:g.37056000C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018607.27, RCV000130936.2, RCV000457239.1,