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.
EPILEPSY, PROGRESSIVE MYOCLONIC, 6
CUI: C3279627
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
3 0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05 0.800 1.000 1 2011 2011
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05 0.010 1.000 1 2014 2014
Progressive cerebellar ataxia
CUI: C0393525
Disease: Progressive cerebellar ataxia
23 0.925 0.120 17 46935122 missense variant G/T snv 6.0E-05 8.4E-05 0.010 1.000 1 2014 2014