Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200378205
rs200378205
GALC
T 0.700 GeneticVariation CLINVAR Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities. 28976722

2018
dbSNP: rs200378205
rs200378205
GALC
T 0.700 GeneticVariation CLINVAR Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. 27126738

2016
dbSNP: rs200378205
rs200378205
GALC
T 0.700 GeneticVariation CLINVAR Newborn screening for Krabbe disease in New York State: the first eight years' experience. 26795590

2016
dbSNP: rs200378205
rs200378205
GALC
T 0.700 GeneticVariation CLINVAR Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. 16607461

2006
dbSNP: rs200378205
rs200378205
GALC
T 0.700 GeneticVariation CLINVAR Molecular heterogeneity of Krabbe disease. 10234611

1999
dbSNP: rs200378205
rs200378205
GALC
T 0.700 CausalMutation CLINVAR