rs796052621, KCNQ2

N. diseases: 6
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.827 0.080 20 63444756 missense variant C/T snv 0.700 0
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.827 0.080 20 63444756 missense variant C/T snv 0.700 0
Convulsions in the newborn
CUI: C0159020
Disease: Convulsions in the newborn
4 0.827 0.080 20 63444756 missense variant C/T snv 0.010 1.000 1 2017 2017
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.827 0.080 20 63444756 missense variant C/T snv 0.010 1.000 1 2017 2017
Infantile Spasm
CUI: C3887898
Disease: Infantile Spasm
39 0.827 0.080 20 63444756 missense variant C/T snv 0.010 1.000 1 2017 2017
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.827 0.080 20 63444756 missense variant C/T snv 0.010 1.000 1 2017 2017