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.
Isolated Growth Hormone Deficiency, Type II
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
7 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.800 1.000 2 1997 2001
Pituitary dwarfism
CUI: C0013338
Disease: Pituitary dwarfism
12 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.030 1.000 3 2001 2020
Isolated somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.020 1.000 2 2001 2020
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.851 0.160 17 63917337 missense variant C/T snv 7.0E-06 0.010 1.000 1 2020 2020