rs752537626

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

87941529

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs752537626
dbSNP (classic)	rs752537626
ClinGen	rs752537626
ebi	rs752537626
HLI	rs752537626
Exac	rs752537626
Gnomad	rs752537626
Varsome	rs752537626
LitVar	rs752537626
Map	rs752537626
PheGenI	rs752537626
Biobank	rs752537626
1000 genomes	rs752537626
hgdp	rs752537626
ensembl	rs752537626
geneview	rs752537626
scholar	rs752537626
google	rs752537626
pharmgkb	rs752537626
gwascentral	rs752537626
openSNP	rs752537626
23andMe	rs752537626
SNPshot	rs752537626
SNPdbe	rs752537626
MSV3d	rs752537626
GWAS Ctlg	rs752537626

Max Magnitude

6

aka c.1700A>C, p.Tyr567Ser

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

ClinVar
Risk	Rs752537626(G;G)
Alt	Rs752537626(G;G)
Reference	Rs752537626(T;T)
Significance	Other
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88407873T>G
CLNSRC
CLNACC	RCV000169344.2,