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 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
Somatotropin deficiency
CUI: C0271561
Disease: Somatotropin deficiency
14 0.925 0.160 17 63917365 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019