rs794727152
A SNP in the SCN2A gene on chromosome 2. Its most notable genotype is A;G: Infantile spasms; early-onset epileptic encephalopathies
- Gene
- SCN2A
- Location
- Chr 2165,342,465 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadInfantile spasms; early-onset epileptic encephalopathies
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other SCN2A SNPs
- rs796053137A;GComplex pediatric neurologic issues including seizures; see discussionVery 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
rs794727152, also known as c.2558G>A, p.Arg853Gln and R853Q, is a rare variant in the SCN2A gene on chromosome 2. The rs794727152(A) allele is reported in ClinVar by two sources to be pathogenic for infantile spasms, more specifically, early-onset epileptic encephalopathies.
A;G
see rs794727152
Source and license
Adapted from rs794727152 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.