rs387906686
A SNP in the SCN2A gene on chromosome 2. Its most notable genotype is C;T: Early infantile epileptic encephalopathy and also benign infantile spasms
- Gene
- SCN2A
- Location
- Chr 2165,310,413 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadEarly infantile epileptic encephalopathy and also benign infantile spasms
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other SCN2A SNPs
- rs794727152A;GInfantile spasms; early-onset epileptic encephalopathiesVery important
- rs796053137A;GComplex pediatric neurologic issues including seizures; see discussionVery important
- rs794727444A;GEarly infantile epileptic encephalopathy and also benign infantile spasmsVery important
- rs121917749C;TBenign familial neonatal-infantile seizuresVery important
- rs121917750C;GBenign familial neonatal-infantile seizuresVery important
- rs2304016A;Acommon in complete genomicsTypical
- rs17183814G;Gcommon in complete genomicsTypical
Notes
From SNPedia
Notes
rs387906686, also known as c.788C>T, p.Ala263Val and A263V, represents a rare variant in the SCN2A gene on chromosome 2. The rs387906686(T) allele is reported by multiple sources in ClinVar to be associated with both benign familial neonatal-infantile seizures (BFNIS) and early infantile epileptic encephalopathy, type 11.
C;T
see rs794727444
Source and license
Adapted from rs387906686 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.