rs1057516850

Orientation

minus

Stabilized

minus

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

Make rs1057516850(-;-)

Make rs1057516850(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72353173

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057516850
dbSNP (classic)	rs1057516850
ClinGen	rs1057516850
ebi	rs1057516850
HLI	rs1057516850
Exac	rs1057516850
Gnomad	rs1057516850
Varsome	rs1057516850
LitVar	rs1057516850
Map	rs1057516850
PheGenI	rs1057516850
Biobank	rs1057516850
1000 genomes	rs1057516850
hgdp	rs1057516850
ensembl	rs1057516850
geneview	rs1057516850
scholar	rs1057516850
google	rs1057516850
pharmgkb	rs1057516850
gwascentral	rs1057516850
openSNP	rs1057516850
23andMe	rs1057516850
SNPshot	rs1057516850
SNPdbe	rs1057516850
MSV3d	rs1057516850
GWAS Ctlg	rs1057516850

Max Magnitude

0

ClinVar
Risk	rs1057516850(-;-)
Alt	rs1057516850(-;-)
Reference	Rs1057516850(T;T)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72645514delA
CLNSRC
CLNACC	RCV000411940.1,