rs1057516957

Orientation

minus

Stabilized

minus

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

Make rs1057516957(C;T)

Make rs1057516957(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72375777

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs1057516957
dbSNP (classic)	rs1057516957
ClinGen	rs1057516957
ebi	rs1057516957
HLI	rs1057516957
Exac	rs1057516957
Gnomad	rs1057516957
Varsome	rs1057516957
LitVar	rs1057516957
Map	rs1057516957
PheGenI	rs1057516957
Biobank	rs1057516957
1000 genomes	rs1057516957
hgdp	rs1057516957
ensembl	rs1057516957
geneview	rs1057516957
scholar	rs1057516957
google	rs1057516957
pharmgkb	rs1057516957
gwascentral	rs1057516957
openSNP	rs1057516957
23andMe	rs1057516957
SNPshot	rs1057516957
SNPdbe	rs1057516957
MSV3d	rs1057516957
GWAS Ctlg	rs1057516957

Max Magnitude

0

ClinVar
Risk	rs1057516957(T;T)
Alt	rs1057516957(T;T)
Reference	Rs1057516957(C;C)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA HEXA-AS1
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72668118G>A
CLNSRC
CLNACC	RCV000411228.1,