rs1057516808

Orientation

minus

Stabilized

minus

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

Make rs1057516808(-;-)

Make rs1057516808(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87965566

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516808
dbSNP (classic)	rs1057516808
ClinGen	rs1057516808
ebi	rs1057516808
HLI	rs1057516808
Exac	rs1057516808
Gnomad	rs1057516808
Varsome	rs1057516808
LitVar	rs1057516808
Map	rs1057516808
PheGenI	rs1057516808
Biobank	rs1057516808
1000 genomes	rs1057516808
hgdp	rs1057516808
ensembl	rs1057516808
geneview	rs1057516808
scholar	rs1057516808
google	rs1057516808
pharmgkb	rs1057516808
gwascentral	rs1057516808
openSNP	rs1057516808
23andMe	rs1057516808
SNPshot	rs1057516808
SNPdbe	rs1057516808
MSV3d	rs1057516808
GWAS Ctlg	rs1057516808

Max Magnitude

0

ClinVar
Risk	rs1057516808(-;-)
Alt	rs1057516808(-;-)
Reference	Rs1057516808(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.88431910delC
CLNSRC
CLNACC	RCV000410081.1,