rs1057516433

Orientation

minus

Stabilized

minus

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

Make rs1057516433(-;-)

Make rs1057516433(-;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87939965

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516433
dbSNP (classic)	rs1057516433
ClinGen	rs1057516433
ebi	rs1057516433
HLI	rs1057516433
Exac	rs1057516433
Gnomad	rs1057516433
Varsome	rs1057516433
LitVar	rs1057516433
Map	rs1057516433
PheGenI	rs1057516433
Biobank	rs1057516433
1000 genomes	rs1057516433
hgdp	rs1057516433
ensembl	rs1057516433
geneview	rs1057516433
scholar	rs1057516433
google	rs1057516433
pharmgkb	rs1057516433
gwascentral	rs1057516433
openSNP	rs1057516433
23andMe	rs1057516433
SNPshot	rs1057516433
SNPdbe	rs1057516433
MSV3d	rs1057516433
GWAS Ctlg	rs1057516433

Max Magnitude

0

ClinVar
Risk	rs1057516433(-;-)
Alt	rs1057516433(-;-)
Reference	Rs1057516433(T;T)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88406309delA
CLNSRC
CLNACC	RCV000409588.1,