rs1057519467

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	8.8	Tay-Sachs disease (predicted)
(G;G)	0	common in clinvar

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72345540

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519467
dbSNP (classic)	rs1057519467
ClinGen	rs1057519467
ebi	rs1057519467
HLI	rs1057519467
Exac	rs1057519467
Gnomad	rs1057519467
Varsome	rs1057519467
LitVar	rs1057519467
Map	rs1057519467
PheGenI	rs1057519467
Biobank	rs1057519467
1000 genomes	rs1057519467
hgdp	rs1057519467
ensembl	rs1057519467
geneview	rs1057519467
scholar	rs1057519467
google	rs1057519467
pharmgkb	rs1057519467
gwascentral	rs1057519467
openSNP	rs1057519467
23andMe	rs1057519467
SNPshot	rs1057519467
SNPdbe	rs1057519467
MSV3d	rs1057519467
GWAS Ctlg	rs1057519467

Max Magnitude

8.8

ClinVar
Risk	Rs1057519467(A;A)
Alt	Rs1057519467(A;A)
Reference	Rs1057519467(G;G)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72637881C>T
CLNSRC
CLNACC	RCV000416475.1,