rs63751109

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)
(T;T)	6	Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC2)

Reference

GRCh38 38.1/141

Chromosome

3

Position

36996633

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63751109
dbSNP (classic)	rs63751109
ClinGen	rs63751109
ebi	rs63751109
HLI	rs63751109
Exac	rs63751109
Gnomad	rs63751109
Varsome	rs63751109
LitVar	rs63751109
Map	rs63751109
PheGenI	rs63751109
Biobank	rs63751109
1000 genomes	rs63751109
hgdp	rs63751109
ensembl	rs63751109
geneview	rs63751109
scholar	rs63751109
google	rs63751109
pharmgkb	rs63751109
gwascentral	rs63751109
openSNP	rs63751109
23andMe	rs63751109
SNPshot	rs63751109
SNPdbe	rs63751109
MSV3d	rs63751109
GWAS Ctlg	rs63751109

Merged from

Rs121912957

Max Magnitude

6

rs63751109 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 8145827]

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 120436.0002

ClinVar
Risk	Rs63751109(T;T)
Alt	Rs63751109(T;T)
Reference	Rs63751109(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.37038124C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018608.30, RCV000075169.2,