rs118192250, KCNQ3

N. diseases: 5
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.
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 0.851 0.120 8 132175457 missense variant C/A snv 0.810 1.000 2 2006 2010
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
7 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2006 2006
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
33 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2009 2009
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2008 2008
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
32 0.851 0.120 8 132175457 missense variant C/A snv 0.010 1.000 1 2008 2008