Gene: SCN2A ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519524
rs1057519524
SCN2A
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519526
rs1057519526
SCN2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519527
rs1057519527
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519528
rs1057519528
SCN2A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553567473
rs1553567473
SCN2A
G 0.700 GeneticVariation CLINVAR

dbSNP: rs387906686
rs387906686
SCN2A
T 0.700 CausalMutation CLINVAR

dbSNP: rs794727444
rs794727444
SCN2A
A 0.700 CausalMutation CLINVAR

dbSNP: rs796053130
rs796053130
SCN2A
T 0.700 GeneticVariation CLINVAR

dbSNP: rs879253767
rs879253767
SCN2A
C 0.700 CausalMutation CLINVAR

dbSNP: rs121917750
rs121917750
SCN2A
0.010 GeneticVariation BEFREE The two variants p.L1342P and p.E1803G detected in patients with early onset epileptic encephalopathy (EE) showed profound and complex changes in channel gating, whereas the BFNIE variant p.L1563V exhibited only a small gain of channel function. 30813884

2019
dbSNP: rs796053134
rs796053134
SCN2A
0.010 GeneticVariation BEFREE The two variants p.L1342P and p.E1803G detected in patients with early onset epileptic encephalopathy (EE) showed profound and complex changes in channel gating, whereas the BFNIE variant p.L1563V exhibited only a small gain of channel function. 30813884

2019
dbSNP: rs796053174
rs796053174
SCN2A
0.010 GeneticVariation BEFREE KCNA2 sequencing revealed 1 de novo mutation (CCDS_827.1: c.890G>A; p.Arg297Gln) in a girl with EE, ataxia, and tremor. 27733563

2016
dbSNP: rs387906685
rs387906685
SCN2A
0.010 GeneticVariation BEFREE The other de novo mutation, SCN2A-I1473M, was identified in a patient with sporadic neonatal epileptic encephalopathy. 19786696

2009