rs63749939

plus

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

Reference

GRCh38 38.1/141

Chromosome

3

Position

36996702

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63749939
dbSNP (classic)	rs63749939
ClinGen	rs63749939
ebi	rs63749939
HLI	rs63749939
Exac	rs63749939
Gnomad	rs63749939
Varsome	rs63749939
LitVar	rs63749939
Map	rs63749939
PheGenI	rs63749939
Biobank	rs63749939
1000 genomes	rs63749939
hgdp	rs63749939
ensembl	rs63749939
geneview	rs63749939
scholar	rs63749939
google	rs63749939
pharmgkb	rs63749939
gwascentral	rs63749939
openSNP	rs63749939
23andMe	rs63749939
SNPshot	rs63749939
SNPdbe	rs63749939
MSV3d	rs63749939
GWAS Ctlg	rs63749939

Merged from

Rs121912966

Max Magnitude

6

rs63749939 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 19142183 ]

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 120436.0029

ClinVar
Risk	Rs63749939(A;A)
Alt	Rs63749939(A;A)
Reference	Rs63749939(G;G)
Significance	Pathogenic
Disease	Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed	0
HGVS	NC_000003.11:g.37038193G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018641.27, RCV000075482.3, RCV000132445.3, RCV000216147.2,