Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917750
rs121917750
SCN2A
0.800 GeneticVariation UNIPROT We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388

2008
dbSNP: rs121917749
rs121917749
SCN2A
0.800 GeneticVariation UNIPROT We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388

2008
dbSNP: rs121917753
rs121917753
SCN2A
A 0.810 CausalMutation CLINVAR We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388

2008
dbSNP: rs121917753
rs121917753
SCN2A
0.810 GeneticVariation UNIPROT We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388

2008
dbSNP: rs121917753
rs121917753
SCN2A
0.810 GeneticVariation BEFREE We examined three BFNIS mutations (R1319Q, L1330F, and L1563V) using whole-cell patch-clamp recording of heterologously expressed human Na(V)1.2. 18479388

2008
dbSNP: rs796053126
rs796053126
SCN2A
A 0.700 CausalMutation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs121917753
rs121917753
SCN2A
0.810 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917748
rs121917748
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917749
rs121917749
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917750
rs121917750
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917751
rs121917751
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917752
rs121917752
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917754
rs121917754
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs1553463119
rs1553463119
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs387906687
rs387906687
SCN2A
0.800 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs767224097
rs767224097
SCN2A
0.700 GeneticVariation UNIPROT Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 22612257

2012
dbSNP: rs121917753
rs121917753
SCN2A
0.810 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs121917748
rs121917748
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs121917749
rs121917749
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs121917750
rs121917750
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs121917751
rs121917751
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs121917752
rs121917752
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs121917754
rs121917754
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs1553463119
rs1553463119
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002
dbSNP: rs387906687
rs387906687
SCN2A
0.800 GeneticVariation UNIPROT Sodium-channel defects in benign familial neonatal-infantile seizures. 12243921

2002