rs587777219, KCNQ2

N. diseases: 3
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, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.925 20 63442428 missense variant G/A snv 0.700 1.000 3 2012 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 20 63442428 missense variant G/A snv 0.700 1.000 2 2012 2015
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.925 20 63442428 missense variant G/A snv 0.700 0