rs766910280, SCN1B

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
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.882 0.040 19 35033556 missense variant C/T snv 1.2E-05 4.2E-05 0.010 1.000 1 2019 2019