PITHD1
PITH domain containing 1
Summary
Involved in positive regulation of DNA-templated transcription and positive regulation of megakaryocyte differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141427404 | 1:24,103,093 | T/C | upstream gene variant | — |
| rs990737831 | 1:24,105,042 | C/T | — | uncertain significance |
| rs775378415 | 1:24,105,145 | G/T | — | uncertain significance |
| rs2521081233 | 1:24,105,160 | G/T | — | uncertain significance |
| rs1638547914 | 1:24,105,162 | G/A | — | uncertain significance |
| rs762513868 | 1:24,106,359 | C/A | — | uncertain significance |
| rs1638682642 | 1:24,112,860 | G/A | — | uncertain significance |
| rs769001180 | 1:24,113,793 | A/G | — | uncertain significance |
| rs374903979 | 1:24,113,832 | A/G | — | uncertain significance |
| rs746309068 | 1:24,113,853 | A/G | — | uncertain significance |
| rs4237 | 1:24,114,129 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.