rs1057516632

Orientation

minus

Stabilized

minus

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

Make rs1057516632(G;G)

Make rs1057516632(G;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87986487

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516632
dbSNP (classic)	rs1057516632
ClinGen	rs1057516632
ebi	rs1057516632
HLI	rs1057516632
Exac	rs1057516632
Gnomad	rs1057516632
Varsome	rs1057516632
LitVar	rs1057516632
Map	rs1057516632
PheGenI	rs1057516632
Biobank	rs1057516632
1000 genomes	rs1057516632
hgdp	rs1057516632
ensembl	rs1057516632
geneview	rs1057516632
scholar	rs1057516632
google	rs1057516632
pharmgkb	rs1057516632
gwascentral	rs1057516632
openSNP	rs1057516632
23andMe	rs1057516632
SNPshot	rs1057516632
SNPdbe	rs1057516632
MSV3d	rs1057516632
GWAS Ctlg	rs1057516632

Max Magnitude

0

ClinVar
Risk	rs1057516632(G;G)
Alt	rs1057516632(G;G)
Reference	Rs1057516632(T;T)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88452831A>C
CLNSRC
CLNACC	RCV000411149.1,