rs17183814, SCN2A

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
0.700 GeneticVariation GWASCAT Genome-wide association study identifies 30 loci associated with bipolar disorder. 31043756 2019
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.020 GeneticVariation BEFREE For SCN2A polymorphism c.56 G > A rs17183814, one hundred patients with epilepsy who were receiving lamotrigine in monotherapy and seventy-one age and sex matched healthy controls were genotyped using TaqMan assay. 31707316 2019
Epilepsy
CUI: C0014544
Disease: Epilepsy
0.020 GeneticVariation BEFREE To evaluate sodium channel genes as candidates for epilepsy susceptibility and their role in therapeutic efficacy, we screened coding single-nucleotide polymorphism of SCN1A p. Thr 1067 Ala or c.3184 A-->G (rs2298771) and SCN2A p.Arg19Lys or c.56 G-->A (rs17183814) in north Indian epilepsy patients. 19694741 2009
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
0.010 GeneticVariation BEFREE Lack of association of SCN2A rs17183814 polymorphism with the efficacy of lamotrigine monotherapy in patients with focal epilepsy from Herzegovina area, Bosnia and Herzegovina. 31707316 2019
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
0.010 GeneticVariation BEFREE Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy. 19738391 2009
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
0.010 GeneticVariation BEFREE Liability of the voltage-gated sodium channel gene SCN2A R19K polymorphism to oxaliplatin-induced peripheral neuropathy. 19738391 2009
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
0.010 GeneticVariation BEFREE We attempted to identify the R188W mutation and confirm association of the R19K polymorphism in 93 Japanese patients with FS, 35 Japanese patients with FS associated with afebrile seizures including GEFS+, and 100 control subjects.The R188W mutation was not found. 12165424 2002
Generalized Epilepsy with Febrile Seizures Plus
0.010 GeneticVariation BEFREE A possible association between SCN2A R19K polymorphism and febrile seizures (FS) associated with afebrile seizures including generalized epilepsy with febrile seizures plus (GEFS+) was also noted. 12165424 2002