Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519437
rs1057519437
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1858120
Disease:
Generalized hypotonia
T 0.700 CausalMutation CLINVAR