rs1057521137

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

72350575

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057521137
dbSNP (classic)	rs1057521137
ClinGen	rs1057521137
ebi	rs1057521137
HLI	rs1057521137
Exac	rs1057521137
Gnomad	rs1057521137
Varsome	rs1057521137
LitVar	rs1057521137
Map	rs1057521137
PheGenI	rs1057521137
Biobank	rs1057521137
1000 genomes	rs1057521137
hgdp	rs1057521137
ensembl	rs1057521137
geneview	rs1057521137
scholar	rs1057521137
google	rs1057521137
pharmgkb	rs1057521137
gwascentral	rs1057521137
openSNP	rs1057521137
23andMe	rs1057521137
SNPshot	rs1057521137
SNPdbe	rs1057521137
MSV3d	rs1057521137
GWAS Ctlg	rs1057521137

Max Magnitude

8.8

ClinVar
Risk	Rs1057521137(A;A)
Alt	Rs1057521137(A;A)
Reference	Rs1057521137(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	HEXA
CLNDBN	not provided
Reversed	1
HGVS	NC_000015.9:g.72642916C>T
CLNSRC
CLNACC	RCV000443171.1,