rs1057517174

Orientation

minus

Stabilized

minus

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

Make rs1057517174(-;-)

Make rs1057517174(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72353714

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057517174
dbSNP (classic)	rs1057517174
ClinGen	rs1057517174
ebi	rs1057517174
HLI	rs1057517174
Exac	rs1057517174
Gnomad	rs1057517174
Varsome	rs1057517174
LitVar	rs1057517174
Map	rs1057517174
PheGenI	rs1057517174
Biobank	rs1057517174
1000 genomes	rs1057517174
hgdp	rs1057517174
ensembl	rs1057517174
geneview	rs1057517174
scholar	rs1057517174
google	rs1057517174
pharmgkb	rs1057517174
gwascentral	rs1057517174
openSNP	rs1057517174
23andMe	rs1057517174
SNPshot	rs1057517174
SNPdbe	rs1057517174
MSV3d	rs1057517174
GWAS Ctlg	rs1057517174

Max Magnitude

0

ClinVar
Risk	rs1057517174(-;-)
Alt	rs1057517174(-;-)
Reference	Rs1057517174(G;G)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72646055delC
CLNSRC
CLNACC	RCV000411678.1,