Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519059
rs1057519059
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease
AA 0.700 CausalMutation CLINVAR