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.
Familial Testotoxicosis
CUI: C0342549
Disease: Familial Testotoxicosis
17 0.827 0.240 2 48688427 missense variant A/C snv 0.800 1.000 11 1993 2001
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
Leydig cell agenesis
CUI: C0266432
Disease: Leydig cell agenesis
21 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
Leydig cell hyperplasia
CUI: C0023600
Disease: Leydig cell hyperplasia
2 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
Leydig Cell Hypoplasia
CUI: C0860158
Disease: Leydig Cell Hypoplasia
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
Testotoxicosis
CUI: C1504412
Disease: Testotoxicosis
10 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2018 2018