Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555383310
rs1555383310
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		G 0.700 GeneticVariation CLINVAR The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. 26108647

2016