Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500123
rs1060500123
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
CUI: C1510460
Disease:
Orofaciodigital Syndrome I
T 0.700 CausalMutation CLINVAR