rs796053137
A SNP in the SCN2A gene on chromosome 2. Its most notable genotype is A;G: Complex pediatric neurologic issues including seizures; see discussion
- Gene
- SCN2A
- Location
- Chr 2165,377,606 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;GMost notableBadComplex pediatric neurologic issues including seizures; see discussion
On SNPedia: (A;A), (A;G). 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
- rs387906686C;TEarly infantile epileptic encephalopathy and also benign infantile spasmsVery 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
rs796053137, also known as c.4264A>G, p.Lys1422Glu and K1422E, represents a very rare mutation in the SCN2A gene on chromosome 2. Reported in ClinVar as "likely pathogenic" on a dominant basis for a group of symptoms including neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. A nonprofit focused on SCN2A-based channelopathies, the FamilieSCN2A Foundation, is a recommended resource for interested parents and others.
A;G
see rs796053137
Source and license
Adapted from rs796053137 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.