rs74315392, KCNQ2

N. diseases: 4
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 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.800 1.000 8 2003 2017
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.700 1.000 1 2003 2003
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.700 1.000 1 2006 2006
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.851 0.080 20 63442482 stop gained G/A;C;T snv 0.010 1.000 1 2019 2019