rs199847983

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 38.1/141

Chromosome

14

Position

87968386

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs199847983
dbSNP (classic)	rs199847983
ClinGen	rs199847983
ebi	rs199847983
HLI	rs199847983
Exac	rs199847983
Gnomad	rs199847983
Varsome	rs199847983
LitVar	rs199847983
Map	rs199847983
PheGenI	rs199847983
Biobank	rs199847983
1000 genomes	rs199847983
hgdp	rs199847983
ensembl	rs199847983
geneview	rs199847983
scholar	rs199847983
google	rs199847983
pharmgkb	rs199847983
gwascentral	rs199847983
openSNP	rs199847983
23andMe	rs199847983
SNPshot	rs199847983
SNPdbe	rs199847983
MSV3d	rs199847983
GWAS Ctlg	rs199847983

Max Magnitude

6

aka c.857G>A, p.Gly286Asp

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

ClinVar
Risk	Rs199847983(T;T)
Alt	Rs199847983(T;T)
Reference	Rs199847983(C;C)
Significance	Other
Disease	Galactosylceramide beta-galactosidase deficiency not provided
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency not provided
Reversed	0
HGVS	NC_000014.8:g.88434730C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023593.4, RCV000363446.1,