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.
Hyperexplexia
CUI: C0234166
Disease: Hyperexplexia
36 1.000 0.160 5 151855144 missense variant C/G snv 0.030 1.000 3 2012 2016
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 1.000 0.160 5 151855144 missense variant C/G snv 0.010 1.000 1 2012 2012