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rs771489305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 6 Krabbe disease (likely)
(-;T) 3 carrier of one Krabbe disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome14
Position87947745
GeneGALC
is asnp
is mentioned by
dbSNPrs771489305
ebirs771489305
HLIrs771489305
Exacrs771489305
Varsomers771489305
Maprs771489305
PheGenIrs771489305
hapmaprs771489305
1000 genomesrs771489305
hgdprs771489305
ensemblrs771489305
gopubmedrs771489305
geneviewrs771489305
scholarrs771489305
googlers771489305
pharmgkbrs771489305
gwascentralrs771489305
openSNPrs771489305
23andMers771489305
23andMe allrs771489305
SNP Nexus

SNPshotrs771489305
SNPdbers771489305
MSV3drs771489305
GWAS Ctlgrs771489305
Max Magnitude6

aka c.1472delA, p.Lys491Argfs

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

ClinVar
Risk rs771489305(;)
Alt rs771489305(;)
Reference rs771489305(T;T)
Significance Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 0
HGVS NC_000014.8:g.88414089delT
CLNSRC
CLNACC RCV000169172.1,