rs1057516617

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1057516617(C;T)

Make rs1057516617(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72346707

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057516617
dbSNP (classic)	rs1057516617
ClinGen	rs1057516617
ebi	rs1057516617
HLI	rs1057516617
Exac	rs1057516617
Gnomad	rs1057516617
Varsome	rs1057516617
LitVar	rs1057516617
Map	rs1057516617
PheGenI	rs1057516617
Biobank	rs1057516617
1000 genomes	rs1057516617
hgdp	rs1057516617
ensembl	rs1057516617
geneview	rs1057516617
scholar	rs1057516617
google	rs1057516617
pharmgkb	rs1057516617
gwascentral	rs1057516617
openSNP	rs1057516617
23andMe	rs1057516617
SNPshot	rs1057516617
SNPdbe	rs1057516617
MSV3d	rs1057516617
GWAS Ctlg	rs1057516617

Max Magnitude

0

ClinVar
Risk	rs1057516617(T;T)
Alt	rs1057516617(T;T)
Reference	Rs1057516617(C;C)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72639048G>A
CLNSRC
CLNACC	RCV000411081.1,