FOXI1
forkhead box I1
Summary
This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
Known Variants144 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10064122 | 5:169,532,633 | A/C | — | benign |
| rs56225360 | 5:169,532,651 | G/A | — | benign |
| rs764490860 | 5:169,532,944 | G/A | — | uncertain significance |
| rs374176565 | 5:169,532,969 | C/T | — | uncertain significance |
| rs750881040 | 5:169,532,970 | C/A | — | likely benign |
| rs2532546282 | 5:169,532,972 | T/A | — | uncertain significance |
| rs137901435 | 5:169,532,991 | C/T | — | conflicting classifications of pathogenicity |
| rs2113894456 | 5:169,533,004 | A/C | — | uncertain significance |
| rs768858662 | 5:169,533,024 | C/T | — | conflicting classifications of pathogenicity |
| rs2532546480 | 5:169,533,033 | G/T | — | uncertain significance |
| rs373020583 | 5:169,533,038 | C/G | — | uncertain significance |
| rs751079599 | 5:169,533,039 | C/T | — | likely benign |
| rs752331785 | 5:169,533,041 | A/C | — | uncertain significance |
| rs777573595 | 5:169,533,053 | A/G | — | likely pathogenic |
| rs142009641 | 5:169,533,092 | C/T | — | likely benign |
| rs773599384 | 5:169,533,102 | C/G | — | likely benign |
| rs1758470315 | 5:169,533,104 | C/T | — | uncertain significance |
| rs146116253 | 5:169,533,120 | C/T | — | uncertain significance |
| rs1417785705 | 5:169,533,122 | A/G | — | uncertain significance |
| rs763835524 | 5:169,533,138 | C/G | — | likely benign |
| rs745736470 | 5:169,533,161 | G/A | — | uncertain significance |
| rs138668268 | 5:169,533,162 | G/A | — | likely benign |
| rs373137429 | 5:169,533,163 | C/T | — | uncertain significance |
| rs562169481 | 5:169,533,186 | C/T | — | likely benign |
| rs550209761 | 5:169,533,192 | C/G | — | likely benign |
| rs775106921 | 5:169,533,193 | G/A | — | uncertain significance |
| rs1356467120 | 5:169,533,195 | C/T | — | likely benign |
| rs1218715072 | 5:169,533,201 | C/T | — | likely benign |
| rs781320501 | 5:169,533,206 | G/A | — | uncertain significance |
| rs748217286 | 5:169,533,209 | C/T | — | uncertain significance |
| rs749433068 | 5:169,533,230 | G/A | — | uncertain significance |
| rs2277944 | 5:169,533,240 | G/A | — | benign |
| rs1053809070 | 5:169,533,268 | G/T | — | uncertain significance |
| rs370450076 | 5:169,533,269 | G/C | — | conflicting classifications of pathogenicity |
| rs1375178612 | 5:169,533,270 | G/C | — | likely benign |
| rs114293092 | 5:169,533,279 | C/G | — | conflicting classifications of pathogenicity |
| rs866775728 | 5:169,533,292 | C/T | — | uncertain significance |
| rs758560898 | 5:169,533,307 | G/A | — | uncertain significance |
| rs757388303 | 5:169,533,333 | A/G | — | likely benign |
| rs962863313 | 5:169,533,357 | C/T | — | likely benign |
| rs1438318544 | 5:169,533,382 | G/C | — | uncertain significance |
| rs780706464 | 5:169,533,386 | A/G | — | uncertain significance |
| rs553561553 | 5:169,533,403 | C/G | — | conflicting classifications of pathogenicity |
| rs762742077 | 5:169,533,423 | C/G | — | likely benign |
| rs766123812 | 5:169,533,429 | C/T | — | likely benign |
| rs2532547745 | 5:169,533,433 | C/A | — | uncertain significance |
| rs2532547847 | 5:169,533,488 | C/T | — | uncertain significance |
| rs373094576 | 5:169,533,489 | G/A | — | conflicting classifications of pathogenicity |
| rs1263549039 | 5:169,533,505 | A/C | — | uncertain significance |
| rs772882906 | 5:169,533,506 | A/G | — | uncertain significance |
| rs1264885315 | 5:169,533,518 | G/A | — | uncertain significance |
| rs148101435 | 5:169,533,519 | C/A | — | benign |
| rs773987289 | 5:169,533,523 | G/A | — | uncertain significance |
| rs759583461 | 5:169,533,526 | G/A | — | uncertain significance |
| rs886060398 | 5:169,533,529 | G/C | — | uncertain significance |
| rs200309754 | 5:169,533,534 | G/A | — | uncertain significance |
| rs891707883 | 5:169,533,555 | G/A | — | likely benign |
| rs2277945 | 5:169,533,606 | T/C | — | benign |
| rs114373923 | 5:169,533,690 | G/T | — | likely benign |
| rs2112669 | 5:169,533,789 | C/G | — | benign |
| rs77136537 | 5:169,534,994 | A/G | — | benign |
| rs1454405287 | 5:169,535,034 | C/T | — | likely benign |
| rs748981874 | 5:169,535,048 | A/G | — | likely benign |
| rs532647880 | 5:169,535,099 | C/T | — | likely benign |
| rs377532550 | 5:169,535,116 | G/A | — | uncertain significance |
| rs765453562 | 5:169,535,124 | A/G | — | uncertain significance |
| rs142841909 | 5:169,535,149 | C/T | — | uncertain significance |
| rs115399307 | 5:169,535,155 | C/T | — | conflicting classifications of pathogenicity |
| rs753194589 | 5:169,535,161 | C/T | — | uncertain significance |
| rs371025378 | 5:169,535,194 | C/T | — | uncertain significance |
| rs549569147 | 5:169,535,195 | G/A | — | likely benign |
| rs35678180 | 5:169,535,204 | C/T | — | conflicting classifications of pathogenicity |
| rs377539902 | 5:169,535,205 | C/A | — | conflicting classifications of pathogenicity |
| rs1487920356 | 5:169,535,212 | C/A | — | uncertain significance |
| rs951259617 | 5:169,535,241 | G/A | — | uncertain significance |
| rs121909340 | 5:169,535,251 | G/A | missense variant | uncertain significance |
| rs139420743 | 5:169,535,254 | G/A | — | uncertain significance |
| rs2532550418 | 5:169,535,262 | A/G | — | uncertain significance |
| rs2532550432 | 5:169,535,271 | G/T | — | uncertain significance |
| rs750087966 | 5:169,535,277 | C/T | — | uncertain significance |
| rs121909341 | 5:169,535,278 | G/A | missense variant | pathogenic |
| rs1258147517 | 5:169,535,280 | C/T | — | uncertain significance |
| rs149203108 | 5:169,535,300 | C/T | — | conflicting classifications of pathogenicity |
| rs145129881 | 5:169,535,301 | G/A | — | likely benign |
| rs147596900 | 5:169,535,303 | C/T | — | conflicting classifications of pathogenicity |
| rs2113896942 | 5:169,535,323 | T/C | — | uncertain significance |
| rs145785746 | 5:169,535,339 | C/G | — | conflicting classifications of pathogenicity |
| rs577415258 | 5:169,535,348 | C/T | — | likely benign |
| rs148265639 | 5:169,535,349 | G/A | — | uncertain significance |
| rs745971973 | 5:169,535,362 | C/T | — | uncertain significance |
| rs554769499 | 5:169,535,363 | G/C | — | likely benign |
| rs140395588 | 5:169,535,365 | G/T | — | uncertain significance |
| rs368854798 | 5:169,535,380 | C/T | — | uncertain significance |
| rs111310617 | 5:169,535,381 | A/G | — | likely benign |
| rs773527333 | 5:169,535,386 | G/A | — | uncertain significance |
| rs1026750367 | 5:169,535,404 | G/A | — | uncertain significance |
| rs202093484 | 5:169,535,414 | G/A | — | likely benign |
| rs755810719 | 5:169,535,415 | G/C | — | uncertain significance |
| rs886060399 | 5:169,535,416 | G/A | — | uncertain significance |
| rs981887790 | 5:169,535,424 | T/C | — | uncertain significance |
Showing 100 of 144 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.