rs1057519465

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72346598

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519465
dbSNP (classic)	rs1057519465
ClinGen	rs1057519465
ebi	rs1057519465
HLI	rs1057519465
Exac	rs1057519465
Gnomad	rs1057519465
Varsome	rs1057519465
LitVar	rs1057519465
Map	rs1057519465
PheGenI	rs1057519465
Biobank	rs1057519465
1000 genomes	rs1057519465
hgdp	rs1057519465
ensembl	rs1057519465
geneview	rs1057519465
scholar	rs1057519465
google	rs1057519465
pharmgkb	rs1057519465
gwascentral	rs1057519465
openSNP	rs1057519465
23andMe	rs1057519465
SNPshot	rs1057519465
SNPdbe	rs1057519465
MSV3d	rs1057519465
GWAS Ctlg	rs1057519465

Max Magnitude

8.8

ClinVar
Risk	Rs1057519465(A;A)
Alt	Rs1057519465(A;A)
Reference	Rs1057519465(G;G)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72638939C>T
CLNSRC
CLNACC	RCV000416427.1,