rs1162306056, 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.
Benign Familial Convulsion
CUI: C3889476
Disease: Benign Familial Convulsion
7 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2014 2014
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2014 2014
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015