rs1057517033

Orientation

minus

Stabilized

minus

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

Make rs1057517033(G;T)

Make rs1057517033(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87939979

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057517033
dbSNP (classic)	rs1057517033
ClinGen	rs1057517033
ebi	rs1057517033
HLI	rs1057517033
Exac	rs1057517033
Gnomad	rs1057517033
Varsome	rs1057517033
LitVar	rs1057517033
Map	rs1057517033
PheGenI	rs1057517033
Biobank	rs1057517033
1000 genomes	rs1057517033
hgdp	rs1057517033
ensembl	rs1057517033
geneview	rs1057517033
scholar	rs1057517033
google	rs1057517033
pharmgkb	rs1057517033
gwascentral	rs1057517033
openSNP	rs1057517033
23andMe	rs1057517033
SNPshot	rs1057517033
SNPdbe	rs1057517033
MSV3d	rs1057517033
GWAS Ctlg	rs1057517033

Max Magnitude

0

ClinVar
Risk	rs1057517033(T;T)
Alt	rs1057517033(T;T)
Reference	Rs1057517033(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.88406323C>A
CLNSRC
CLNACC	RCV000410434.1,