rs748190164

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Tay-Sachs mutation
(T;T)	8.8	Tay-Sachs disease (predicted)

Make rs748190164(C;G)

Make rs748190164(G;G)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

72356531

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs748190164
dbSNP (classic)	rs748190164
ClinGen	rs748190164
ebi	rs748190164
HLI	rs748190164
Exac	rs748190164
Gnomad	rs748190164
Varsome	rs748190164
LitVar	rs748190164
Map	rs748190164
PheGenI	rs748190164
Biobank	rs748190164
1000 genomes	rs748190164
hgdp	rs748190164
ensembl	rs748190164
geneview	rs748190164
scholar	rs748190164
google	rs748190164
pharmgkb	rs748190164
gwascentral	rs748190164
openSNP	rs748190164
23andMe	rs748190164
SNPshot	rs748190164
SNPdbe	rs748190164
MSV3d	rs748190164
GWAS Ctlg	rs748190164

Max Magnitude

8.8

ClinVar
Risk	rs748190164(G;G) Rs748190164(T;T)
Alt	rs748190164(G;G) Rs748190164(T;T)
Reference	Rs748190164(C;C)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	0
HGVS	NC_000015.9:g.72648872C>T
CLNSRC
CLNACC	RCV000203235.1,