rs1057517296

Orientation

minus

Stabilized

minus

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

Make rs1057517296(-;GA)

Make rs1057517296(GA;GA)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72375911

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs1057517296
dbSNP (classic)	rs1057517296
ClinGen	rs1057517296
ebi	rs1057517296
HLI	rs1057517296
Exac	rs1057517296
Gnomad	rs1057517296
Varsome	rs1057517296
LitVar	rs1057517296
Map	rs1057517296
PheGenI	rs1057517296
Biobank	rs1057517296
1000 genomes	rs1057517296
hgdp	rs1057517296
ensembl	rs1057517296
geneview	rs1057517296
scholar	rs1057517296
google	rs1057517296
pharmgkb	rs1057517296
gwascentral	rs1057517296
openSNP	rs1057517296
23andMe	rs1057517296
SNPshot	rs1057517296
SNPdbe	rs1057517296
MSV3d	rs1057517296
GWAS Ctlg	rs1057517296

Max Magnitude

0

ClinVar
Risk	rs1057517296(GA;GA)
Alt	rs1057517296(GA;GA)
Reference	Rs1057517296(-;-)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA HEXA-AS1
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72668253_72668254dupTC
CLNSRC
CLNACC	RCV000412167.1,