rs1057516469

Orientation

minus

Stabilized

minus

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

Make rs1057516469(-;-)

Make rs1057516469(-;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87965526

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516469
dbSNP (classic)	rs1057516469
ClinGen	rs1057516469
ebi	rs1057516469
HLI	rs1057516469
Exac	rs1057516469
Gnomad	rs1057516469
Varsome	rs1057516469
LitVar	rs1057516469
Map	rs1057516469
PheGenI	rs1057516469
Biobank	rs1057516469
1000 genomes	rs1057516469
hgdp	rs1057516469
ensembl	rs1057516469
geneview	rs1057516469
scholar	rs1057516469
google	rs1057516469
pharmgkb	rs1057516469
gwascentral	rs1057516469
openSNP	rs1057516469
23andMe	rs1057516469
SNPshot	rs1057516469
SNPdbe	rs1057516469
MSV3d	rs1057516469
GWAS Ctlg	rs1057516469

Max Magnitude

0

ClinVar
Risk	rs1057516469(-;-)
Alt	rs1057516469(-;-)
Reference	Rs1057516469(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.88431870delC
CLNSRC
CLNACC	RCV000410105.1,