rs1057516394

Orientation

minus

Stabilized

minus

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

Make rs1057516394(-;-)

Make rs1057516394(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87949910

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516394
dbSNP (classic)	rs1057516394
ClinGen	rs1057516394
ebi	rs1057516394
HLI	rs1057516394
Exac	rs1057516394
Gnomad	rs1057516394
Varsome	rs1057516394
LitVar	rs1057516394
Map	rs1057516394
PheGenI	rs1057516394
Biobank	rs1057516394
1000 genomes	rs1057516394
hgdp	rs1057516394
ensembl	rs1057516394
geneview	rs1057516394
scholar	rs1057516394
google	rs1057516394
pharmgkb	rs1057516394
gwascentral	rs1057516394
openSNP	rs1057516394
23andMe	rs1057516394
SNPshot	rs1057516394
SNPdbe	rs1057516394
MSV3d	rs1057516394
GWAS Ctlg	rs1057516394

Max Magnitude

0

ClinVar
Risk	rs1057516394(-;-)
Alt	rs1057516394(-;-)
Reference	Rs1057516394(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.88416254delC
CLNSRC
CLNACC	RCV000411089.1,