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.
HYPEREKPLEXIA 1
CUI: C4551954
Disease: HYPEREKPLEXIA 1
23 1.000 0.120 5 151851470 missense variant G/T snv 0.800 1.000 13 1993 2015
Hyperexplexia
CUI: C0234166
Disease: Hyperexplexia
36 1.000 0.120 5 151851470 missense variant G/T snv 0.730 1.000 3 1999 2004
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 1.000 0.120 5 151851470 missense variant G/T snv 0.010 1.000 1 2002 2002