Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749708827
rs749708827
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.700 GeneticVariation CLINVAR Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. 27638593

2016
dbSNP: rs749708827
rs749708827
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.700 GeneticVariation CLINVAR Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. 22704718

2012
dbSNP: rs749708827
rs749708827
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.700 GeneticVariation CLINVAR Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. 21824559

2011