rs1057516755

Orientation

minus

Stabilized

minus

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

Make rs1057516755(-;-)

Make rs1057516755(-;TCAA)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72348075

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057516755
dbSNP (classic)	rs1057516755
ClinGen	rs1057516755
ebi	rs1057516755
HLI	rs1057516755
Exac	rs1057516755
Gnomad	rs1057516755
Varsome	rs1057516755
LitVar	rs1057516755
Map	rs1057516755
PheGenI	rs1057516755
Biobank	rs1057516755
1000 genomes	rs1057516755
hgdp	rs1057516755
ensembl	rs1057516755
geneview	rs1057516755
scholar	rs1057516755
google	rs1057516755
pharmgkb	rs1057516755
gwascentral	rs1057516755
openSNP	rs1057516755
23andMe	rs1057516755
SNPshot	rs1057516755
SNPdbe	rs1057516755
MSV3d	rs1057516755
GWAS Ctlg	rs1057516755

Max Magnitude

0

ClinVar
Risk	rs1057516755(-;-)
Alt	rs1057516755(-;-)
Reference	Rs1057516755(TCAA;TCAA)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72640416_72640419delTTGA
CLNSRC
CLNACC	RCV000411211.1,