rs121909236
A SNP in the PTEN gene on chromosome 10. Its most notable genotype is G;G: Vater association with macrocephaly and ventriculomegaly; PTEN related disorder though?
- Gene
- PTEN
- Location
- Chr 1087,925,529 (GRCh38)
- Highest magnitude
- 6.6Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GBadVATER association with macrocephaly and ventriculomegaly; PTEN syndrome?
- G;GMost notableBadVater association with macrocephaly and ventriculomegaly; PTEN related disorder though?
On SNPedia: (C;C), (C;G), (G;G). 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
- 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
- rs121909224C;TMacrocephaly/autism syndrome; Bannayan-Riley-Ruvalcaba syndromeVery important
Notes
From SNPedia
Notes
C;G
Reported as recessive, yet in a gene with many dominant mutations leading to some similar phenotypes (PTEN hamartoma tumor syndrome); see ClinVar sidebar for more information or OMIM.
G;G
see discussion at rs121909236(C;G) and ClinVar sidebar (to consider possibility this is PTEN hamartoma tumor syndrome related)
Source and license
Adapted from rs121909236 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.