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.
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
Memory impairment
CUI: C0233794
Disease: Memory impairment
48 0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06 0.010 1.000 1 2011 2011