rs63750691

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5	possible Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(G;G)	5	Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37017521

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750691
dbSNP (classic)	rs63750691
ClinGen	rs63750691
ebi	rs63750691
HLI	rs63750691
Exac	rs63750691
Gnomad	rs63750691
Varsome	rs63750691
LitVar	rs63750691
Map	rs63750691
PheGenI	rs63750691
Biobank	rs63750691
1000 genomes	rs63750691
hgdp	rs63750691
ensembl	rs63750691
geneview	rs63750691
scholar	rs63750691
google	rs63750691
pharmgkb	rs63750691
gwascentral	rs63750691
openSNP	rs63750691
23andMe	rs63750691
SNPshot	rs63750691
SNPdbe	rs63750691
MSV3d	rs63750691
GWAS Ctlg	rs63750691

Merged from

Rs121912964

Max Magnitude

5

rs63750691 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 15571801]

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 120436.0021

ClinVar
Risk	Rs63750691(G;G)
Alt	Rs63750691(G;G)
Reference	Rs63750691(C;C)
Significance	Pathogenic
Disease	Lynch syndrome II Lynch syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome II Lynch syndrome
Reversed	0
HGVS	NC_000003.11:g.37059012C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018631.27, RCV000075875.2,