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 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.800 1.000 12 1997 2014
Anovulation
CUI: C0003128
Disease: Anovulation
8 0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2012 2012
Hypogonadotropic hypogonadism
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
18 0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2012 2012
Klinefelter Syndrome
CUI: C0022735
Disease: Klinefelter Syndrome
18 0.882 0.160 4 67754068 missense variant C/T snv 3.6E-05 7.0E-06 0.010 1.000 1 2012 2012