rs121909231
A SNP in the PTEN gene on chromosome 10. Its most notable genotype is C;T: Macrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome
- Gene
- PTEN
- Location
- Chr 1087,961,095 (GRCh38)
- Highest magnitude
- 6.3Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;TMost notableBadMacrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndrome
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PTEN SNPs
- rs121909235A;GGlioma susceptibility; meningioma (indicatedVery important
- rs121909236G;GVater association with macrocephaly and ventriculomegaly; PTEN related disorder though?Very important
- rs121909218A;GCowden syndromeVery important
- rs121909219C;TMacrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndromeVery important
- rs121909220G;TLhermitte-Duclos diseaseVery important
- rs121909221A;TBannayan-Riley-Ruvalcaba syndromeVery important
- rs121909222A;GCowden syndromeVery important
- rs121909223C;TCowden syndromeVery important
Notes
From SNPedia
Notes
C;T
Considered pathogenic in ClinVar.
Source and license
Adapted from rs121909231 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.