rs121912974, POR

N. diseases: 4
Disease: Congenital Abnormality ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
0.010 GeneticVariation BEFREE The human POR mutation A287P presents with disordered sexual development and skeletal malformations. 27496950 2016