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 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.800 1.000 12 1997 2014
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
Hypogonadotropic hypogonadism
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
18 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
Klinefelter Syndrome
CUI: C0022735
Disease: Klinefelter Syndrome
18 0.851 0.160 4 67753825 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2003 2003