rs74315390, KCNQ2

N. diseases: 8
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.
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.790 0.120 20 63439609 missense variant C/G;T snv 0.800 1.000 11 1998 2016
Seizures
CUI: C0036572
Disease: Seizures
553 0.790 0.120 20 63439609 missense variant C/G;T snv 0.710 1.000 9 1993 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.790 0.120 20 63439609 missense variant C/G;T snv 0.700 1.000 8 2003 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016
Familial benign neonatal epilepsy
CUI: C0220669
Disease: Familial benign neonatal epilepsy
13 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2014 2014
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2008 2008
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016