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.
Idiopathic hypogonadotropic hypogonadism
CUI: C0342384
Disease: Idiopathic hypogonadotropic hypogonadism
66 0.925 0.040 4 67754306 missense variant A/T snv 1.3E-04 6.3E-05 0.800 1.000 12 1997 2014
Hypogonadism, Isolated Hypogonadotropic
CUI: C3489396
Disease: Hypogonadism, Isolated Hypogonadotropic
8 0.925 0.040 4 67754306 missense variant A/T snv 1.3E-04 6.3E-05 0.010 1.000 1 2001 2001