Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555383679
rs1555383679
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		GT 0.700 CausalMutation CLINVAR Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. 22115770

2012
dbSNP: rs1555383679
rs1555383679
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		GT 0.700 GeneticVariation CLINVAR Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. 22115770

2012