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 0.925 0.240 2 48688162 stop gained G/T snv 8.0E-06 0.700 0
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
12 0.925 0.240 2 48688162 stop gained G/T snv 8.0E-06 0.010 1.000 1 1995 1995