DIAPH1
diaphanous related formin 1
Summary
This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants1,274 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886060024 | 5:140,894,764 | G/C | — | uncertain significance |
| rs531768148 | 5:140,894,781 | C/G | — | likely benign |
| rs527786719 | 5:140,894,811 | G/A | — | benign |
| rs76801798 | 5:140,894,821 | C/T | — | benign |
| rs566532178 | 5:140,894,861 | G/A | — | likely benign |
| rs886060025 | 5:140,894,874 | T/C | — | uncertain significance |
| rs542820984 | 5:140,894,885 | G/A | — | uncertain significance |
| rs886060026 | 5:140,894,974 | A/C | — | uncertain significance |
| rs886060027 | 5:140,895,023 | G/A | — | uncertain significance |
| rs116342492 | 5:140,895,054 | A/G | — | benign |
| rs251020 | 5:140,895,071 | G/C | — | benign |
| rs886060028 | 5:140,895,081 | G/A | — | uncertain significance |
| rs530260919 | 5:140,895,096 | G/C | — | likely benign |
| rs1050712305 | 5:140,895,109 | T/A | — | uncertain significance |
| rs112580910 | 5:140,895,114 | T/C | — | benign |
| rs6892185 | 5:140,895,377 | C/T | — | benign |
| rs886060029 | 5:140,895,412 | A/G | — | uncertain significance |
| rs55798800 | 5:140,895,485 | A/T | — | benign |
| rs558698891 | 5:140,895,548 | C/T | — | uncertain significance |
| rs1044198282 | 5:140,895,551 | C/T | — | uncertain significance |
| rs891901311 | 5:140,895,607 | T/G | — | uncertain significance |
| rs561468918 | 5:140,895,663 | A/G | — | likely benign |
| rs557696634 | 5:140,895,684 | G/A | — | likely benign |
| rs1019753124 | 5:140,895,694 | G/A | — | uncertain significance |
| rs186922755 | 5:140,895,709 | G/A | — | likely benign |
| rs886060030 | 5:140,895,717 | A/G | — | uncertain significance |
| rs527315700 | 5:140,895,774 | G/A | — | uncertain significance |
| rs144081334 | 5:140,895,800 | C/G | — | benign |
| rs886060031 | 5:140,895,885 | C/T | — | uncertain significance |
| rs2099885681 | 5:140,895,897 | C/T | — | uncertain significance |
| rs148686869 | 5:140,896,051 | G/C | — | conflicting classifications of pathogenicity |
| rs927185230 | 5:140,896,086 | A/C | — | uncertain significance |
| rs558843739 | 5:140,896,093 | C/G | — | likely benign |
| rs771538799 | 5:140,896,164 | C/T | — | uncertain significance |
| rs774939804 | 5:140,896,182 | A/G | — | uncertain significance |
| rs182541836 | 5:140,896,194 | C/T | — | likely benign |
| rs55934506 | 5:140,896,201 | G/A | — | likely benign |
| rs574596779 | 5:140,896,330 | G/A | — | uncertain significance |
| rs375612034 | 5:140,896,379 | C/T | — | uncertain significance |
| rs202086273 | 5:140,896,402 | G/A | — | likely benign |
| rs368263785 | 5:140,896,413 | C/A | — | likely benign |
| rs753432442 | 5:140,896,419 | T/A | — | uncertain significance |
| rs2154594795 | 5:140,896,425 | G/A | — | uncertain significance |
| rs1167599945 | 5:140,896,426 | C/A | — | uncertain significance |
| rs371664456 | 5:140,896,428 | C/T | — | uncertain significance |
| rs758272814 | 5:140,896,429 | G/A | — | uncertain significance |
| rs1163619347 | 5:140,896,434 | A/G | — | uncertain significance |
| rs2513594208 | 5:140,896,438 | A/G | — | likely benign |
| rs2099885770 | 5:140,896,444 | T/A | — | uncertain significance |
| rs2099885771 | 5:140,896,445 | G/A | — | likely benign |
| rs1596330476 | 5:140,896,454 | A/G | — | likely benign |
| rs2154594796 | 5:140,896,456 | G/A | — | uncertain significance |
| rs1596330487 | 5:140,896,460 | T/C | — | conflicting classifications of pathogenicity |
| rs2513594318 | 5:140,896,462 | T/C | — | uncertain significance |
| rs751282493 | 5:140,896,465 | G/A | — | uncertain significance |
| rs546064158 | 5:140,896,470 | G/A | — | uncertain significance |
| rs35755269 | 5:140,896,472 | C/T | — | benign |
| rs2099885774 | 5:140,896,473 | T/C | — | uncertain significance |
| rs748341361 | 5:140,896,479 | T/C | — | uncertain significance |
| rs1258855952 | 5:140,896,487 | C/T | — | likely benign |
| rs1320235178 | 5:140,896,489 | C/T | — | uncertain significance |
| rs749871871 | 5:140,896,501 | C/A | — | uncertain significance |
| rs1554199642 | 5:140,896,510 | T/C | — | uncertain significance |
| rs1431294451 | 5:140,896,511 | G/C | — | likely benign |
| rs2513594744 | 5:140,896,526 | C/T | — | likely benign |
| rs1449303982 | 5:140,896,528 | G/T | — | uncertain significance |
| rs772429379 | 5:140,896,531 | C/A | — | uncertain significance |
| rs776296177 | 5:140,896,532 | C/T | — | likely benign |
| rs761387295 | 5:140,896,533 | G/C | — | uncertain significance |
| rs764739820 | 5:140,896,536 | G/A | — | uncertain significance |
| rs2513594833 | 5:140,896,543 | G/C | — | uncertain significance |
| rs2513594838 | 5:140,896,544 | A/G | — | likely benign |
| rs1596330582 | 5:140,896,547 | T/A | — | likely benign |
| rs2099885782 | 5:140,896,548 | G/A | — | uncertain significance |
| rs2154594798 | 5:140,896,557 | C/T | — | uncertain significance |
| rs1466328561 | 5:140,896,558 | A/G | — | uncertain significance |
| rs1314519860 | 5:140,896,559 | C/T | — | likely benign |
| rs2099885784 | 5:140,896,560 | C/T | — | uncertain significance |
| rs1353463076 | 5:140,896,561 | C/T | — | uncertain significance |
| rs371385202 | 5:140,896,562 | G/A | — | likely benign |
| rs754761532 | 5:140,896,564 | C/A | — | uncertain significance |
| rs376832359 | 5:140,896,566 | T/C | — | uncertain significance |
| rs1423948383 | 5:140,896,572 | T/C | — | uncertain significance |
| rs752983682 | 5:140,896,578 | G/A | — | uncertain significance |
| rs756395607 | 5:140,896,579 | C/T | — | likely benign |
| rs2154594799 | 5:140,896,581 | A/G | — | likely benign |
| rs778069558 | 5:140,896,582 | G/A | — | likely benign |
| rs2513595099 | 5:140,896,584 | G/C | — | likely benign |
| rs1278697343 | 5:140,896,586 | A/C | — | likely benign |
| rs369935242 | 5:140,896,589 | C/T | — | likely benign |
| rs541845126 | 5:140,896,590 | G/A | — | likely benign |
| rs560824183 | 5:140,896,591 | A/G | — | likely benign |
| rs371640300 | 5:140,896,592 | G/A | — | benign |
| rs1418296419 | 5:140,896,594 | G/C | — | likely benign |
| rs1596330659 | 5:140,896,595 | A/C | — | likely benign |
| rs72790081 | 5:140,896,599 | C/T | — | likely benign |
| rs185759881 | 5:140,903,547 | C/A | — | likely benign |
| rs113373216 | 5:140,903,641 | G/A | — | likely benign |
| rs75229850 | 5:140,903,676 | C/T | — | likely benign |
| rs2154594915 | 5:140,903,694 | C/T | — | likely benign |
Showing 100 of 1,274 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.