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 5 151851530 missense variant G/T snv 4.0E-06 0.030 1.000 3 1999 2004
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 5 151851530 missense variant G/T snv 4.0E-06 0.010 1.000 1 2002 2002