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 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.820 1.000 21 1997 2017
Congenital hypogonadotropic hypogonadism
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
10 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2012 2012
Constitutional delay of growth and puberty
CUI: C0342538
Disease: Constitutional delay of growth and puberty
7 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006
Hypogonadotropic hypogonadism
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
18 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2012 2012
Kallmann Syndrome 1
CUI: C1563719
Disease: Kallmann Syndrome 1
30 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2011 2011
Oligospermia
CUI: C0028960
Disease: Oligospermia
72 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2006 2006