rs1057519459

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

72353687

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519459
dbSNP (classic)	rs1057519459
ClinGen	rs1057519459
ebi	rs1057519459
HLI	rs1057519459
Exac	rs1057519459
Gnomad	rs1057519459
Varsome	rs1057519459
LitVar	rs1057519459
Map	rs1057519459
PheGenI	rs1057519459
Biobank	rs1057519459
1000 genomes	rs1057519459
hgdp	rs1057519459
ensembl	rs1057519459
geneview	rs1057519459
scholar	rs1057519459
google	rs1057519459
pharmgkb	rs1057519459
gwascentral	rs1057519459
openSNP	rs1057519459
23andMe	rs1057519459
SNPshot	rs1057519459
SNPdbe	rs1057519459
MSV3d	rs1057519459
GWAS Ctlg	rs1057519459

Max Magnitude

8.8

ClinVar
Risk	Rs1057519459(C;C)
Alt	Rs1057519459(C;C)
Reference	Rs1057519459(A;A)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72646028T>G
CLNSRC
CLNACC	RCV000416426.1,