rs1057516908

Orientation

minus

Stabilized

minus

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

Make rs1057516908(C;C)

Make rs1057516908(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72349260

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057516908
dbSNP (classic)	rs1057516908
ClinGen	rs1057516908
ebi	rs1057516908
HLI	rs1057516908
Exac	rs1057516908
Gnomad	rs1057516908
Varsome	rs1057516908
LitVar	rs1057516908
Map	rs1057516908
PheGenI	rs1057516908
Biobank	rs1057516908
1000 genomes	rs1057516908
hgdp	rs1057516908
ensembl	rs1057516908
geneview	rs1057516908
scholar	rs1057516908
google	rs1057516908
pharmgkb	rs1057516908
gwascentral	rs1057516908
openSNP	rs1057516908
23andMe	rs1057516908
SNPshot	rs1057516908
SNPdbe	rs1057516908
MSV3d	rs1057516908
GWAS Ctlg	rs1057516908

Max Magnitude

0

ClinVar
Risk	rs1057516908(C;C)
Alt	rs1057516908(C;C)
Reference	Rs1057516908(G;G)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72641601C>G
CLNSRC
CLNACC	RCV000411061.1,