rs1057520900
A SNP in the PTEN gene on chromosome 10. Its most notable genotype is G;T: PTEN hamartoma tumor syndrome
- Gene
- PTEN
- Location
- Chr 1087,957,893 (GRCh38)
- Highest magnitude
- 6.3Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;TMost notableBadPTEN hamartoma tumor syndrome
- T;TGoodcommon/normal
On SNPedia: (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
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
PTEN gene, c.675T>G (p.Tyr225Ter); pathogenic in ClinVar for PTEN hamartoma tumor syndrome note c.675T>C is likely to be a benign variant according to ClinVar
G;T
Considered pathogenic in ClinVar.
Source and license
Adapted from rs1057520900 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.