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 somatotropin deficiency
CUI: C3714796
Disease: Isolated somatotropin deficiency
27 0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007
Pituitary dwarfism
CUI: C0013338
Disease: Pituitary dwarfism
12 0.925 0.120 17 63917760 splice region variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007