rs1057519460

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

72353114

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519460
dbSNP (classic)	rs1057519460
ClinGen	rs1057519460
ebi	rs1057519460
HLI	rs1057519460
Exac	rs1057519460
Gnomad	rs1057519460
Varsome	rs1057519460
LitVar	rs1057519460
Map	rs1057519460
PheGenI	rs1057519460
Biobank	rs1057519460
1000 genomes	rs1057519460
hgdp	rs1057519460
ensembl	rs1057519460
geneview	rs1057519460
scholar	rs1057519460
google	rs1057519460
pharmgkb	rs1057519460
gwascentral	rs1057519460
openSNP	rs1057519460
23andMe	rs1057519460
SNPshot	rs1057519460
SNPdbe	rs1057519460
MSV3d	rs1057519460
GWAS Ctlg	rs1057519460

Max Magnitude

8.8

ClinVar
Risk	Rs1057519460(C;C)
Alt	Rs1057519460(C;C)
Reference	Rs1057519460(A;A)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72645455T>G
CLNSRC
CLNACC	RCV000416473.1,