rs1064794856

Orientation

minus

Stabilized

minus

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

Chromosome

15

Position

72353108

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1064794856
dbSNP (classic)	rs1064794856
ClinGen	rs1064794856
ebi	rs1064794856
HLI	rs1064794856
Exac	rs1064794856
Gnomad	rs1064794856
Varsome	rs1064794856
LitVar	rs1064794856
Map	rs1064794856
PheGenI	rs1064794856
Biobank	rs1064794856
1000 genomes	rs1064794856
hgdp	rs1064794856
ensembl	rs1064794856
geneview	rs1064794856
scholar	rs1064794856
google	rs1064794856
pharmgkb	rs1064794856
gwascentral	rs1064794856
openSNP	rs1064794856
23andMe	rs1064794856
SNPshot	rs1064794856
SNPdbe	rs1064794856
MSV3d	rs1064794856
GWAS Ctlg	rs1064794856

Max Magnitude

8.8

ClinVar
Risk	Rs1064794856(G;G)
Alt	Rs1064794856(G;G)
Reference	Rs1064794856(C;C)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	HEXA
CLNDBN	not provided
Reversed	1
HGVS	NC_000015.9:g.72645449G>C
CLNSRC
CLNACC	RCV000485524.1,