rs1057519468

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72345518

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519468
dbSNP (classic)	rs1057519468
ClinGen	rs1057519468
ebi	rs1057519468
HLI	rs1057519468
Exac	rs1057519468
Gnomad	rs1057519468
Varsome	rs1057519468
LitVar	rs1057519468
Map	rs1057519468
PheGenI	rs1057519468
Biobank	rs1057519468
1000 genomes	rs1057519468
hgdp	rs1057519468
ensembl	rs1057519468
geneview	rs1057519468
scholar	rs1057519468
google	rs1057519468
pharmgkb	rs1057519468
gwascentral	rs1057519468
openSNP	rs1057519468
23andMe	rs1057519468
SNPshot	rs1057519468
SNPdbe	rs1057519468
MSV3d	rs1057519468
GWAS Ctlg	rs1057519468

Max Magnitude

8.8

ClinVar
Risk	Rs1057519468(A;A)
Alt	Rs1057519468(A;A)
Reference	Rs1057519468(G;G)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72637859C>T
CLNSRC
CLNACC	RCV000416424.1,