SETD1A
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | SET domain containing 1A |
| EntrezGene | 9739 |
| PheGenI | 9739 |
| VariationViewer | 9739 |
| ClinVar | SETD1A |
| GeneCards | SETD1A |
| dbSNP | 9739 |
| Diseases | SETD1A |
| SADR | 9739 |
| HugeNav | 9739 |
| wikipedia | SETD1A |
| SETD1A | |
| gopubmed | SETD1A |
| EVS | SETD1A |
| HEFalMp | SETD1A |
| MyGene2 | SETD1A |
| 23andMe | SETD1A |
| UniProt | O15047 |
| Ensembl | ENSG00000099381 |
| OMIM | 611052 |
| # SNPs | 10 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs61744449 | 0 | 30,969,641 | |
| rs754369980 | 0 | 30,965,995 | |
| rs755127868 | 0 | 30,980,737 | |
| rs761709838 | 0 | 30,958,857 | |
| rs762131795 | 0 | 30,966,085 | |
| rs770913157 | 3.5 | 30,965,819 | |
| rs869312829 | 3.5 | 30,963,431 | |
| rs869312830 | 3.5 | 30,965,014 | |
| rs869312831 | 3.5 | 30,966,090 | |
| rs869312832 | 3.5 | 30,966,052 |
Mutations in the SETD1A gene have been implicated in several neurodevelopment and/or psychiatric disorders.
[PMID 26974950] Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
SETD1a gene variants in ClinVar considered pathogenic for schizophrenia include:
