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 0.882 0.240 2 48687950 missense variant G/T snv 2.0E-05 4.9E-05 0.700 1.000 10 1995 2009
LEYDIG HYPOPLASIA, TYPE I
CUI: C4016252
Disease: LEYDIG HYPOPLASIA, TYPE I
1 0.882 0.240 2 48687950 missense variant G/T snv 2.0E-05 4.9E-05 0.700 0
Histiocytosis, Langerhans-Cell
CUI: C0019621
Disease: Histiocytosis, Langerhans-Cell
12 0.882 0.240 2 48687950 missense variant G/T snv 2.0E-05 4.9E-05 0.030 1.000 3 1996 2015