rs374635469

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

87986543

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs374635469
dbSNP (classic)	rs374635469
ClinGen	rs374635469
ebi	rs374635469
HLI	rs374635469
Exac	rs374635469
Gnomad	rs374635469
Varsome	rs374635469
LitVar	rs374635469
Map	rs374635469
PheGenI	rs374635469
Biobank	rs374635469
1000 genomes	rs374635469
hgdp	rs374635469
ensembl	rs374635469
geneview	rs374635469
scholar	rs374635469
google	rs374635469
pharmgkb	rs374635469
gwascentral	rs374635469
openSNP	rs374635469
23andMe	rs374635469
SNPshot	rs374635469
SNPdbe	rs374635469
MSV3d	rs374635469
GWAS Ctlg	rs374635469

Max Magnitude

6

aka c.388G>A, p.Glu130Lys

ClinVar indicates as "probably pathogenic" for Krabbe disease

ClinVar
Risk	rs374635469(G;G) Rs374635469(T;T)
Alt	rs374635469(G;G) Rs374635469(T;T)
Reference	Rs374635469(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.88452887C>T
CLNSRC
CLNACC	RCV000169155.1,