rs779701490

Orientation

plus

Stabilized

plus

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

Make rs779701490(A;A)

Make rs779701490(A;C)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87988143

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs779701490
dbSNP (classic)	rs779701490
ClinGen	rs779701490
ebi	rs779701490
HLI	rs779701490
Exac	rs779701490
Gnomad	rs779701490
Varsome	rs779701490
LitVar	rs779701490
Map	rs779701490
PheGenI	rs779701490
Biobank	rs779701490
1000 genomes	rs779701490
hgdp	rs779701490
ensembl	rs779701490
geneview	rs779701490
scholar	rs779701490
google	rs779701490
pharmgkb	rs779701490
gwascentral	rs779701490
openSNP	rs779701490
23andMe	rs779701490
SNPshot	rs779701490
SNPdbe	rs779701490
MSV3d	rs779701490
GWAS Ctlg	rs779701490

Max Magnitude

0

ClinVar
Risk	rs779701490(A;A)
Alt	rs779701490(A;A)
Reference	Rs779701490(C;C)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88454487C>A
CLNSRC
CLNACC	RCV000409516.1,