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 166046969 missense variant C/G;T snv 0.800 1.000 32 2003 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.925 0.040 2 166046969 missense variant C/G;T snv 0.700 1.000 8 2003 2015