rs1057516816

Orientation

minus

Stabilized

minus

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

Make rs1057516816(C;G)

Make rs1057516816(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87993036

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs1057516816
dbSNP (classic)	rs1057516816
ClinGen	rs1057516816
ebi	rs1057516816
HLI	rs1057516816
Exac	rs1057516816
Gnomad	rs1057516816
Varsome	rs1057516816
LitVar	rs1057516816
Map	rs1057516816
PheGenI	rs1057516816
Biobank	rs1057516816
1000 genomes	rs1057516816
hgdp	rs1057516816
ensembl	rs1057516816
geneview	rs1057516816
scholar	rs1057516816
google	rs1057516816
pharmgkb	rs1057516816
gwascentral	rs1057516816
openSNP	rs1057516816
23andMe	rs1057516816
SNPshot	rs1057516816
SNPdbe	rs1057516816
MSV3d	rs1057516816
GWAS Ctlg	rs1057516816

Max Magnitude

0

ClinVar
Risk	rs1057516816(G;G)
Alt	rs1057516816(G;G)
Reference	Rs1057516816(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.88459380G>C
CLNSRC
CLNACC	RCV000410107.1,