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.
Leydig cell agenesis
CUI: C0266432
Disease: Leydig cell agenesis
21 0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06 0.700 1.000 10 1995 2009
Leydig Cell Hypoplasia, Type II
CUI: C2673497
Disease: Leydig Cell Hypoplasia, Type II
2 0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06 0.700 0
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06 0.010 1.000 1 2002 2002
Penis agenesis
CUI: C1387005
Disease: Penis agenesis
11 0.851 0.160 2 48687923 missense variant A/T snv 7.0E-06 0.010 1.000 1 2002 2002