rs1057519464

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72347711

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519464
dbSNP (classic)	rs1057519464
ClinGen	rs1057519464
ebi	rs1057519464
HLI	rs1057519464
Exac	rs1057519464
Gnomad	rs1057519464
Varsome	rs1057519464
LitVar	rs1057519464
Map	rs1057519464
PheGenI	rs1057519464
Biobank	rs1057519464
1000 genomes	rs1057519464
hgdp	rs1057519464
ensembl	rs1057519464
geneview	rs1057519464
scholar	rs1057519464
google	rs1057519464
pharmgkb	rs1057519464
gwascentral	rs1057519464
openSNP	rs1057519464
23andMe	rs1057519464
SNPshot	rs1057519464
SNPdbe	rs1057519464
MSV3d	rs1057519464
GWAS Ctlg	rs1057519464

Max Magnitude

8.8

ClinVar
Risk	Rs1057519464(C;C)
Alt	Rs1057519464(C;C)
Reference	Rs1057519464(A;A)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72640052T>G
CLNSRC
CLNACC	RCV000416466.1,