rs17183814

This is a variant in the SCN2A gene that changes a arginine to an lysine.

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

bipolar disorder

Li HJ et al. “Novel Risk Loci Associated With Genetic Risk for Bipolar Disorder Among Han Chinese Individuals: A Genome-Wide Association Study and Meta-analysis.” Jama Psychiatry 78(3):320-330 (2021)
Allele A
OR 0.88
p 2.0e-9
N 58,182
Meta-analysisLarge GWAS
multi-ancestry
Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele A
OR 1.11
p 3.0e-8
N 413,466
Large GWAS
European
Stahl EA et al. “Genome-wide association study identifies 30 loci associated with bipolar disorder.” Nature Genetics 51(5):793-803 (2019)
Allele A
OR 1.14
p 2.0e-9
N 51,710
Large GWAS
European
▶

ClinVar annotation

Benign★★★★
10 submitters2 publications

Complex neurodevelopmental disorder; Developmental and epileptic encephalopathy, 11 (DEE11); Inborn genetic diseases; Seizures, benign familial infantile, 3 (BFIS3); not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients
AssociationN=354Lihong Shi et al.(2019)· European Journal of Clinical Pharmacology

This study investigated the association of SCN1A and SCN2A gene polymorphisms with valproic acid (VPA) response in 354 Chinese epilepsy patients. SCN1A rs3812718 (G>A) and SCN2A rs2304016 (A>G) were significantly associated with VPA response in both monotherapy and polytherapy. The rs3812718 A allele was protective against VPA resistance (OR=0.41, P=0.020 for monotherapy), while the rs2304016 G allele increased risk of resistance (OR=2.36, P=0.031 for monotherapy).

Traits studied:Drug resistanceEpilepsyValproic acid response
PubMedDOIMetascience Observatory

About SCN2A

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

View all SCN2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…