rs1057516642

Orientation

minus

Stabilized

minus

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

Make rs1057516642(C;G)

Make rs1057516642(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87965586

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516642
dbSNP (classic)	rs1057516642
ClinGen	rs1057516642
ebi	rs1057516642
HLI	rs1057516642
Exac	rs1057516642
Gnomad	rs1057516642
Varsome	rs1057516642
LitVar	rs1057516642
Map	rs1057516642
PheGenI	rs1057516642
Biobank	rs1057516642
1000 genomes	rs1057516642
hgdp	rs1057516642
ensembl	rs1057516642
geneview	rs1057516642
scholar	rs1057516642
google	rs1057516642
pharmgkb	rs1057516642
gwascentral	rs1057516642
openSNP	rs1057516642
23andMe	rs1057516642
SNPshot	rs1057516642
SNPdbe	rs1057516642
MSV3d	rs1057516642
GWAS Ctlg	rs1057516642

Max Magnitude

0

ClinVar
Risk	rs1057516642(G;G)
Alt	rs1057516642(G;G)
Reference	Rs1057516642(C;C)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88431930G>C
CLNSRC
CLNACC	RCV000412229.1,