Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042057
rs886042057
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		G 0.700 GeneticVariation CLINVAR Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. 23197103

2013
dbSNP: rs886042057
rs886042057
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		G 0.700 GeneticVariation CLINVAR Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene. 9005874

1997
dbSNP: rs886042057
rs886042057
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		G 0.700 GeneticVariation CLINVAR Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy. 8940268

1996