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 0.882 0.040 2 48688106 missense variant T/C snv 0.810 1.000 12 1993 2006
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.882 0.040 2 48688106 missense variant T/C snv 0.010 1.000 1 2006 2006
Testotoxicosis
CUI: C1504412
Disease: Testotoxicosis
10 0.882 0.040 2 48688106 missense variant T/C snv 0.010 1.000 1 2006 2006