Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1566974586
rs1566974586
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.700 GeneticVariation CLINVAR A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family. 30209698

2018