rs118192211, KCNQ2

N. diseases: 9
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 0.790 0.080 20 63439644 missense variant G/A;C snv 0.800 1.000 13 2003 2017
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 1.000 1 2007 2007
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 0
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.790 0.080 20 63439644 missense variant G/A;C snv 0.700 0
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
7 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2015 2015
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.080 20 63439644 missense variant G/A;C snv 0.010 1.000 1 2014 2014