rs63750706

Orientation

plus

Stabilized

plus

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

Make rs63750706(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

36993609

Gene	EPM2AIP1, MLH1

is a	snp
is	mentioned by
dbSNP	rs63750706
dbSNP (classic)	rs63750706
ClinGen	rs63750706
ebi	rs63750706
HLI	rs63750706
Exac	rs63750706
Gnomad	rs63750706
Varsome	rs63750706
LitVar	rs63750706
Map	rs63750706
PheGenI	rs63750706
Biobank	rs63750706
1000 genomes	rs63750706
hgdp	rs63750706
ensembl	rs63750706
geneview	rs63750706
scholar	rs63750706
google	rs63750706
pharmgkb	rs63750706
gwascentral	rs63750706
openSNP	rs63750706
23andMe	rs63750706
SNPshot	rs63750706
SNPdbe	rs63750706
MSV3d	rs63750706
GWAS Ctlg	rs63750706

Max Magnitude

6

ClinVar
Risk	rs63750706(A;A) rs63750706(T;T)
Alt	rs63750706(A;A) rs63750706(T;T)
Reference	Rs63750706(C;C)
Significance	Pathogenic
Disease	Lynch syndrome Lynch syndrome I
Variation	info
Gene	EPM2AIP1 MLH1
CLNDBN	Lynch syndrome Lynch syndrome I
Reversed	0
HGVS	NC_000003.11:g.37035100C>A; NC_000003.11:g.37035100C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000075786.2, RCV000075787.3,