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 0.790 0.080 2 166052869 missense variant G/A;C snv 0.800 1.000 21 2003 2017
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 1.000 5 2007 2015
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 0
Migraine, Familial Hemiplegic, 3
CUI: C1864987
Disease: Migraine, Familial Hemiplegic, 3
14 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.080 2 166052869 missense variant G/A;C snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.790 0.080 2 166052869 missense variant G/A;C snv 0.020 1.000 2 2019 2020
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.790 0.080 2 166052869 missense variant G/A;C snv 0.020 1.000 2 2019 2020