rs749893889

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	6	Krabbe disease (likely)
(A;G)	3	carrier of one Krabbe disease allele
(G;G)	0	common in clinvar

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

87945632

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs749893889
dbSNP (classic)	rs749893889
ClinGen	rs749893889
ebi	rs749893889
HLI	rs749893889
Exac	rs749893889
Gnomad	rs749893889
Varsome	rs749893889
LitVar	rs749893889
Map	rs749893889
PheGenI	rs749893889
Biobank	rs749893889
1000 genomes	rs749893889
hgdp	rs749893889
ensembl	rs749893889
geneview	rs749893889
scholar	rs749893889
google	rs749893889
pharmgkb	rs749893889
gwascentral	rs749893889
openSNP	rs749893889
23andMe	rs749893889
SNPshot	rs749893889
SNPdbe	rs749893889
MSV3d	rs749893889
GWAS Ctlg	rs749893889

Max Magnitude

6

aka c.1591C>T, p.Arg531Cys

Identified in ClinVar as likely pathogenic for Krabbe disease (when inherited in two copies or as a compound heterozygote)

ClinVar
Risk	Rs749893889(A;A)
Alt	Rs749893889(A;A)
Reference	Rs749893889(G;G)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88411976G>A
CLNSRC
CLNACC	RCV000169377.1,