rs1057516085, 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.
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.827 0.080 20 63444747 missense variant C/T snv 0.700 1.000 7 2013 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.827 0.080 20 63444747 missense variant C/T snv 0.700 1.000 1 2013 2013
Convulsions in the newborn
CUI: C0159020
Disease: Convulsions in the newborn
4 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2017 2017
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
Myoclonus
CUI: C0027066
Disease: Myoclonus
34 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2017 2017
Neonatal encephalopathy
CUI: C0235820
Disease: Neonatal encephalopathy
10 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2017 2017