rs121909236(C;G)
From SNPedia
| VATER association with macrocephaly and ventriculomegaly; PTEN syndrome? |
| Is a | genotype |
| of | rs121909236 |
| Gene | PTEN |
| Chromosome | 10 |
| Position | 87,925,529 |
| mentioned | by |
| Magnitude | 3.9 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3.9 | VATER association with macrocephaly and ventriculomegaly; PTEN syndrome? |
| (G;G) | 6.6 | Vater association with macrocephaly and ventriculomegaly; PTEN related disorder though? |
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.
