rs1057517348

Orientation

minus

Stabilized

minus

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

Make rs1057517348(-;-)

Make rs1057517348(-;TT)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72375948

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs1057517348
dbSNP (classic)	rs1057517348
ClinGen	rs1057517348
ebi	rs1057517348
HLI	rs1057517348
Exac	rs1057517348
Gnomad	rs1057517348
Varsome	rs1057517348
LitVar	rs1057517348
Map	rs1057517348
PheGenI	rs1057517348
Biobank	rs1057517348
1000 genomes	rs1057517348
hgdp	rs1057517348
ensembl	rs1057517348
geneview	rs1057517348
scholar	rs1057517348
google	rs1057517348
pharmgkb	rs1057517348
gwascentral	rs1057517348
openSNP	rs1057517348
23andMe	rs1057517348
SNPshot	rs1057517348
SNPdbe	rs1057517348
MSV3d	rs1057517348
GWAS Ctlg	rs1057517348

Max Magnitude

0

ClinVar
Risk	rs1057517348(-;-)
Alt	rs1057517348(-;-)
Reference	Rs1057517348(TT;TT)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA-AS1 HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72668289_72668290delAA
CLNSRC
CLNACC	RCV000409425.1,