rs117067974, KCNQ2

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.
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
7 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.020 1.000 2 2015 2017
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.020 1.000 2 2015 2017
Continuous spike and waves during slow sleep
CUI: C3806403
Disease: Continuous spike and waves during slow sleep
2 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2017 2017
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2015 2015
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.080 20 63414174 missense variant C/A;G snv 2.0E-05; 2.6E-03 0.010 1.000 1 2017 2017