rs749597090

Orientation

plus

Stabilized

plus

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

Make rs749597090(C;T)

Make rs749597090(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

14

Position

87945552

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs749597090
dbSNP (classic)	rs749597090
ClinGen	rs749597090
ebi	rs749597090
HLI	rs749597090
Exac	rs749597090
Gnomad	rs749597090
Varsome	rs749597090
LitVar	rs749597090
Map	rs749597090
PheGenI	rs749597090
Biobank	rs749597090
1000 genomes	rs749597090
hgdp	rs749597090
ensembl	rs749597090
geneview	rs749597090
scholar	rs749597090
google	rs749597090
pharmgkb	rs749597090
gwascentral	rs749597090
openSNP	rs749597090
23andMe	rs749597090
SNPshot	rs749597090
SNPdbe	rs749597090
MSV3d	rs749597090
GWAS Ctlg	rs749597090

Max Magnitude

0

ClinVar
Risk	rs749597090(T;T)
Alt	rs749597090(T;T)
Reference	Rs749597090(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.88411896C>T
CLNSRC
CLNACC	RCV000409892.1,