rs63750610

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	6	Lynch syndrome
(C;T)	6	Lynch syndrome, pathogenic mutation

Make rs63750610(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

37048563

Gene

MLH1

is a	snp
is	mentioned by
dbSNP	rs63750610
dbSNP (classic)	rs63750610
ClinGen	rs63750610
ebi	rs63750610
HLI	rs63750610
Exac	rs63750610
Gnomad	rs63750610
Varsome	rs63750610
LitVar	rs63750610
Map	rs63750610
PheGenI	rs63750610
Biobank	rs63750610
1000 genomes	rs63750610
hgdp	rs63750610
ensembl	rs63750610
geneview	rs63750610
scholar	rs63750610
google	rs63750610
pharmgkb	rs63750610
gwascentral	rs63750610
openSNP	rs63750610
23andMe	rs63750610
SNPshot	rs63750610
SNPdbe	rs63750610
MSV3d	rs63750610
GWAS Ctlg	rs63750610

Max Magnitude

6

aka c.1943C>T, p.Pro648Leu and P648L

ClinVar
Risk	rs63750610(T;T)
Alt	rs63750610(T;T)
Reference	Rs63750610(C;C)
Significance	Pathogenic
Disease	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II Muir-Torré syndrome Turcot syndrome
Variation	info
Gene	MLH1
CLNDBN	Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II Muir-Torré syndrome Turcot syndrome
Reversed	0
HGVS	NC_000003.11:g.37090054C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000075433.2, RCV000221413.1, RCV000477957.1,