Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Aromatase deficiency
CUI: C1960539
Disease: Aromatase deficiency
13 0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06 0.710 1.000 1 2014 2014
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
Hypospadias
CUI: C0848558
Disease: Hypospadias
80 0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
83 0.851 0.240 15 51222402 missense variant C/T snv 4.0E-06 0.010 1.000 1 2014 2014