rs587777162, EEF1A2

N. diseases: 5
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
9 0.925 0.040 20 63495972 missense variant C/T snv 0.800 1.000 4 2012 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.040 20 63495972 missense variant C/T snv 0.700 1.000 10 2009 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.040 20 63495972 missense variant C/T snv 0.700 1.000 2 2012 2013
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.925 0.040 20 63495972 missense variant C/T snv 0.010 1.000 1 2017 2017
nervous system disorder
CUI: C0027765
Disease: nervous system disorder
39 0.925 0.040 20 63495972 missense variant C/T snv 0.010 1.000 1 2015 2015