Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1568503938
rs1568503938
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
CUI: C0024776
Disease:
Maple Syrup Urine Disease
C 0.700 CausalMutation CLINVAR