rs63751612

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	4	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

37047520

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63751612
dbSNP (classic)	rs63751612
ClinGen	rs63751612
ebi	rs63751612
HLI	rs63751612
Exac	rs63751612
Gnomad	rs63751612
Varsome	rs63751612
LitVar	rs63751612
Map	rs63751612
PheGenI	rs63751612
Biobank	rs63751612
1000 genomes	rs63751612
hgdp	rs63751612
ensembl	rs63751612
geneview	rs63751612
scholar	rs63751612
google	rs63751612
pharmgkb	rs63751612
gwascentral	rs63751612
openSNP	rs63751612
23andMe	rs63751612
SNPshot	rs63751612
SNPdbe	rs63751612
MSV3d	rs63751612
GWAS Ctlg	rs63751612

Merged from

Rs121912960

Max Magnitude

5

rs63751612 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 10598809]

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 120436.0013

ClinVar
Risk	Rs63751612(G;G)
Alt	Rs63751612(G;G)
Reference	Rs63751612(A;A)
Significance	Other
Disease	Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome II Lynch syndrome Hereditary cancer-predisposing syndrome not specified
Reversed	0
HGVS	NC_000003.11:g.37089011A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018621.30, RCV000075342.3, RCV000163055.2, RCV000222490.3,