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.
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
392 0.925 0.040 2 165994236 missense variant A/G snv 0.700 1.000 20 2003 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
76 0.925 0.040 2 165994236 missense variant A/G snv 0.700 1.000 2 2007 2015