rs750524447

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

87968334

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs750524447
dbSNP (classic)	rs750524447
ClinGen	rs750524447
ebi	rs750524447
HLI	rs750524447
Exac	rs750524447
Gnomad	rs750524447
Varsome	rs750524447
LitVar	rs750524447
Map	rs750524447
PheGenI	rs750524447
Biobank	rs750524447
1000 genomes	rs750524447
hgdp	rs750524447
ensembl	rs750524447
geneview	rs750524447
scholar	rs750524447
google	rs750524447
pharmgkb	rs750524447
gwascentral	rs750524447
openSNP	rs750524447
23andMe	rs750524447
SNPshot	rs750524447
SNPdbe	rs750524447
MSV3d	rs750524447
GWAS Ctlg	rs750524447

Max Magnitude

6

aka c.908+1G>A

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

ClinVar
Risk	Rs750524447(T;T)
Alt	Rs750524447(T;T)
Reference	Rs750524447(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.88434678C>T
CLNSRC
CLNACC	RCV000169153.1,