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 0.240 2 48688020 missense variant C/G snv 0.810 1.000 10 1995 2009
Luteinizing Hormone Resistance, Female
CUI: C3668935
Disease: Luteinizing Hormone Resistance, Female
3 0.851 0.240 2 48688020 missense variant C/G snv 0.700 0
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
12 0.851 0.240 2 48688020 missense variant C/G snv 0.010 1.000 1 1998 1998
Leydig Cell Hypoplasia
CUI: C0860158
Disease: Leydig Cell Hypoplasia
6 0.851 0.240 2 48688020 missense variant C/G snv 0.010 1.000 1 1995 1995