rs794727116

Orientation

minus

Stabilized

minus

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

Make rs794727116(A;A)

Make rs794727116(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

87945680

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs794727116
dbSNP (classic)	rs794727116
ClinGen	rs794727116
ebi	rs794727116
HLI	rs794727116
Exac	rs794727116
Gnomad	rs794727116
Varsome	rs794727116
LitVar	rs794727116
Map	rs794727116
PheGenI	rs794727116
Biobank	rs794727116
1000 genomes	rs794727116
hgdp	rs794727116
ensembl	rs794727116
geneview	rs794727116
scholar	rs794727116
google	rs794727116
pharmgkb	rs794727116
gwascentral	rs794727116
openSNP	rs794727116
23andMe	rs794727116
SNPshot	rs794727116
SNPdbe	rs794727116
MSV3d	rs794727116
GWAS Ctlg	rs794727116

Max Magnitude

0

ClinVar
Risk	rs794727116(A;A)
Alt	rs794727116(A;A)
Reference	Rs794727116(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.88412024C>T
CLNSRC
CLNACC	RCV000174663.1,