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 0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05 0.700 1.000 12 1997 2014
Hypogonadotropic hypogonadism
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
18 0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05 0.010 1.000 1 2009 2009
Klinefelter Syndrome
CUI: C0022735
Disease: Klinefelter Syndrome
18 0.882 0.160 4 67740670 missense variant A/C snv 8.0E-06 5.6E-05 0.010 1.000 1 2009 2009