rs397514581, KCNQ2

N. diseases: 3
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 0.882 0.040 20 63444711 missense variant C/T snv 0.800 1.000 11 2003 2017
SEIZURES, BENIGN FAMILIAL NEONATAL, 1
CUI: C3149074
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1
104 0.882 0.040 20 63444711 missense variant C/T snv 0.800 1.000 9 1998 2016
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.882 0.040 20 63444711 missense variant C/T snv 0.700 1.000 5 2012 2016