rs1057519458

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72353724

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519458
dbSNP (classic)	rs1057519458
ClinGen	rs1057519458
ebi	rs1057519458
HLI	rs1057519458
Exac	rs1057519458
Gnomad	rs1057519458
Varsome	rs1057519458
LitVar	rs1057519458
Map	rs1057519458
PheGenI	rs1057519458
Biobank	rs1057519458
1000 genomes	rs1057519458
hgdp	rs1057519458
ensembl	rs1057519458
geneview	rs1057519458
scholar	rs1057519458
google	rs1057519458
pharmgkb	rs1057519458
gwascentral	rs1057519458
openSNP	rs1057519458
23andMe	rs1057519458
SNPshot	rs1057519458
SNPdbe	rs1057519458
MSV3d	rs1057519458
GWAS Ctlg	rs1057519458

Max Magnitude

8.8

ClinVar
Risk	Rs1057519458(-;-)
Alt	Rs1057519458(-;-)
Reference	Rs1057519458(T;T)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72646065delA
CLNSRC
CLNACC	RCV000416465.1,