Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs751975987
rs751975987
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.700 CausalMutation CLINVAR Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease. 28598007

2018
dbSNP: rs751975987
rs751975987
GALC
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		A 0.700 CausalMutation CLINVAR Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases. 25265039

2014