Disease: Penile hypospadias ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs765057534
rs765057534
Entrez Id: 1588;109729174
Gene Symbol: CYP19A1;MIR4713HG
CYP19A1;MIR4713HG
CUI: C1691215
Disease:
Penile hypospadias 		0.010 GeneticVariation BEFREE R192H is a novel CYP19A1 mutation which causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy. 24705274 2014