rs1057519462

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72350535

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519462
dbSNP (classic)	rs1057519462
ClinGen	rs1057519462
ebi	rs1057519462
HLI	rs1057519462
Exac	rs1057519462
Gnomad	rs1057519462
Varsome	rs1057519462
LitVar	rs1057519462
Map	rs1057519462
PheGenI	rs1057519462
Biobank	rs1057519462
1000 genomes	rs1057519462
hgdp	rs1057519462
ensembl	rs1057519462
geneview	rs1057519462
scholar	rs1057519462
google	rs1057519462
pharmgkb	rs1057519462
gwascentral	rs1057519462
openSNP	rs1057519462
23andMe	rs1057519462
SNPshot	rs1057519462
SNPdbe	rs1057519462
MSV3d	rs1057519462
GWAS Ctlg	rs1057519462

Max Magnitude

8.8

ClinVar
Risk	Rs1057519462(T;T)
Alt	Rs1057519462(T;T)
Reference	Rs1057519462(C;C)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72642876G>A
CLNSRC
CLNACC	RCV000416422.1,