Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555383306
rs1555383306
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.700 GeneticVariation CLINVAR Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. 24252386

2014
dbSNP: rs1555383306
rs1555383306
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.700 GeneticVariation CLINVAR Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. 10464649

1999
dbSNP: rs1555383306
rs1555383306
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		T 0.700 GeneticVariation CLINVAR Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. 9272171

1997