rs63750217

plus

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

Reference

GRCh38 38.1/141

Chromosome

3

Position

37048955

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750217
dbSNP (classic)	rs63750217
ClinGen	rs63750217
ebi	rs63750217
HLI	rs63750217
Exac	rs63750217
Gnomad	rs63750217
Varsome	rs63750217
LitVar	rs63750217
Map	rs63750217
PheGenI	rs63750217
Biobank	rs63750217
1000 genomes	rs63750217
hgdp	rs63750217
ensembl	rs63750217
geneview	rs63750217
scholar	rs63750217
google	rs63750217
pharmgkb	rs63750217
gwascentral	rs63750217
openSNP	rs63750217
23andMe	rs63750217
SNPshot	rs63750217
SNPdbe	rs63750217
MSV3d	rs63750217
GWAS Ctlg	rs63750217

Max Magnitude

6

rs63750217 is a SNP in the MLH1 gene on chromosome 3, associated with Lynch syndrome (HNPCC).[PMID 16451135]

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 120436.0022

OMIM	120436
Desc
Variant	0022
Related	also

ClinVar
Risk	Rs63750217(A;A) rs63750217(C;C)
Alt	Rs63750217(A;A) rs63750217(C;C)
Reference	Rs63750217(G;G)
Significance	Other
Disease	Lynch syndrome II Lynch syndrome not specified Hereditary cancer-predisposing syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome II Lynch syndrome not specified Hereditary cancer-predisposing syndrome
Reversed	0
HGVS	NC_000003.11:g.37090446G>A; NC_000003.11:g.37090446G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018632.23, RCV000075495.3, RCV000202172.1, RCV000213700.1, RCV000221566.1,