rs794727740, 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.
X-linked infantile spasms
CUI: C4552072
Disease: X-linked infantile spasms
122 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 1.000 6 2012 2017
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
CUI: C3150986
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 1.000 4 2012 2014
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 20 63442429 missense variant C/G;T snv 0.700 0