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 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.800 1.000 11 1993 2001
Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
CUI: C2674612
Disease: Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty
1 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.700 0
Leydig Cell Tumor
CUI: C0023601
Disease: Leydig Cell Tumor
3 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.700 0
Adenoma
CUI: C0001430
Disease: Adenoma
103 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.030 1.000 3 2000 2011
Leydig cell hyperplasia
CUI: C0023600
Disease: Leydig cell hyperplasia
2 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2000 2002
Testotoxicosis
CUI: C1504412
Disease: Testotoxicosis
10 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2011 2017
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Leydig cell agenesis
CUI: C0266432
Disease: Leydig cell agenesis
21 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2000 2000
Leydig Cell Hypoplasia
CUI: C0860158
Disease: Leydig Cell Hypoplasia
6 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2000 2000
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2002 2002
Nodule
CUI: C0028259
Disease: Nodule
19 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2017 2017