rs931949929, 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, EARLY INFANTILE, 52
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
4 0.882 0.040 19 35033607 missense variant A/G;T snv 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.882 0.040 19 35033607 missense variant A/G;T snv 0.010 1.000 1 2012 2012
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.882 0.040 19 35033607 missense variant A/G;T snv 0.010 1.000 1 2012 2012