rs16969925, SCN1B

N. diseases: 6
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.
ATRIAL FIBRILLATION, FAMILIAL, 13
CUI: C3809311
Disease: ATRIAL FIBRILLATION, FAMILIAL, 13
3 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.800 0
Brugada Syndrome 5
CUI: C2748541
Disease: Brugada Syndrome 5
3 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
CUI: C4479236
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52
4 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
CUI: C1858672
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
5 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.700 0
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
584 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2009 2009
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.160 19 35033545 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2011 2011