rs1057519461

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72351168

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519461
dbSNP (classic)	rs1057519461
ClinGen	rs1057519461
ebi	rs1057519461
HLI	rs1057519461
Exac	rs1057519461
Gnomad	rs1057519461
Varsome	rs1057519461
LitVar	rs1057519461
Map	rs1057519461
PheGenI	rs1057519461
Biobank	rs1057519461
1000 genomes	rs1057519461
hgdp	rs1057519461
ensembl	rs1057519461
geneview	rs1057519461
scholar	rs1057519461
google	rs1057519461
pharmgkb	rs1057519461
gwascentral	rs1057519461
openSNP	rs1057519461
23andMe	rs1057519461
SNPshot	rs1057519461
SNPdbe	rs1057519461
MSV3d	rs1057519461
GWAS Ctlg	rs1057519461

Max Magnitude

8.8

ClinVar
Risk	Rs1057519461(C;C)
Alt	Rs1057519461(C;C)
Reference	Rs1057519461(T;T)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72643509A>G
CLNSRC
CLNACC	RCV000416415.1,