rs1057517382

Orientation

minus

Stabilized

minus

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

Make rs1057517382(-;-)

Make rs1057517382(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87965517

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517382
dbSNP (classic)	rs1057517382
ClinGen	rs1057517382
ebi	rs1057517382
HLI	rs1057517382
Exac	rs1057517382
Gnomad	rs1057517382
Varsome	rs1057517382
LitVar	rs1057517382
Map	rs1057517382
PheGenI	rs1057517382
Biobank	rs1057517382
1000 genomes	rs1057517382
hgdp	rs1057517382
ensembl	rs1057517382
geneview	rs1057517382
scholar	rs1057517382
google	rs1057517382
pharmgkb	rs1057517382
gwascentral	rs1057517382
openSNP	rs1057517382
23andMe	rs1057517382
SNPshot	rs1057517382
SNPdbe	rs1057517382
MSV3d	rs1057517382
GWAS Ctlg	rs1057517382

Max Magnitude

0

ClinVar
Risk	rs1057517382(-;-)
Alt	rs1057517382(-;-)
Reference	Rs1057517382(G;G)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88431861delC
CLNSRC
CLNACC	RCV000409313.1,