rs121918321
A SNP in the STXBP1 gene on chromosome 9. Its most notable genotype is C;T: Early infantile epileptic encephalopathy, type 4
- Gene
- STXBP1
- Location
- Chr 9127,675,855 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadEarly infantile epileptic encephalopathy, type 4
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other STXBP1 SNPs
- rs121918317A;GEarly infantile epileptic encephalopathy, type 4Very important
- rs121918318A;GEarly infantile epileptic encephalopathy, type 4Very important
- rs121918319G;TEarly infantile epileptic encephalopathy, type 4Very important
- rs121918320A;TEarly infantile epileptic encephalopathy, type 4Very important
- rs587776641A;GEarly infantile epileptic encephalopathy, type 4Very important
- rs587777310A;GEarly infantile epileptic encephalopathy, type 4Very important
- rs587784454-;ATEarly infantile epileptic encephalopathy, type 4Very important
- rs727504173G;TEarly infantile epileptic encephalopathy, type 4Very important
Notes
From SNPedia
Notes
aka c.1162C>T (p.Arg388Ter or R388X)
C;T
see discussion at STXBP1
Source and license
Adapted from rs121918321 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.