rs1057519536, KCNQ2

N. diseases: 2
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
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.040 20 63442424 missense variant A/T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.925 0.040 20 63442424 missense variant A/T snv 0.700 0