rs1057519466

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72346307

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519466
dbSNP (classic)	rs1057519466
ClinGen	rs1057519466
ebi	rs1057519466
HLI	rs1057519466
Exac	rs1057519466
Gnomad	rs1057519466
Varsome	rs1057519466
LitVar	rs1057519466
Map	rs1057519466
PheGenI	rs1057519466
Biobank	rs1057519466
1000 genomes	rs1057519466
hgdp	rs1057519466
ensembl	rs1057519466
geneview	rs1057519466
scholar	rs1057519466
google	rs1057519466
pharmgkb	rs1057519466
gwascentral	rs1057519466
openSNP	rs1057519466
23andMe	rs1057519466
SNPshot	rs1057519466
SNPdbe	rs1057519466
MSV3d	rs1057519466
GWAS Ctlg	rs1057519466

Max Magnitude

8.8

ClinVar
Risk	Rs1057519466(-;-)
Alt	Rs1057519466(-;-)
Reference	Rs1057519466(C;C)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72638648delG
CLNSRC
CLNACC	RCV000416471.1,