rs786204585

Orientation

minus

Stabilized

minus

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)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

72344139

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs786204585
dbSNP (classic)	rs786204585
ClinGen	rs786204585
ebi	rs786204585
HLI	rs786204585
Exac	rs786204585
Gnomad	rs786204585
Varsome	rs786204585
LitVar	rs786204585
Map	rs786204585
PheGenI	rs786204585
Biobank	rs786204585
1000 genomes	rs786204585
hgdp	rs786204585
ensembl	rs786204585
geneview	rs786204585
scholar	rs786204585
google	rs786204585
pharmgkb	rs786204585
gwascentral	rs786204585
openSNP	rs786204585
23andMe	rs786204585
SNPshot	rs786204585
SNPdbe	rs786204585
MSV3d	rs786204585
GWAS Ctlg	rs786204585

Max Magnitude

8.8

ClinVar
Risk	Rs786204585(T;T)
Alt	Rs786204585(T;T)
Reference	Rs786204585(C;C)
Significance	Other
Disease	Tay-Sachs disease not provided
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease not provided
Reversed	1
HGVS	NC_000015.9:g.72636480G>A
CLNSRC
CLNACC	RCV000169328.1, RCV000421085.1,