ITIH3
inter-alpha-trypsin inhibitor heavy chain 3
Summary
This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs376872714 | 3:52,828,901 | C/T | — | uncertain significance |
| rs545740325 | 3:52,829,183 | G/A | — | — |
| rs113141688 | 3:52,829,622 | C/T | — | uncertain significance |
| rs376686824 | 3:52,830,512 | G/A | — | uncertain significance |
| rs115714636 | 3:52,830,527 | A/G | missense variant | — |
| rs9816589 | 3:52,830,547 | C/T | — | benign |
| rs369217264 | 3:52,830,552 | G/A | — | uncertain significance |
| rs777224219 | 3:52,830,563 | A/G | — | uncertain significance |
| rs200381646 | 3:52,830,584 | G/A | — | uncertain significance |
| rs377495994 | 3:52,830,600 | C/T | — | uncertain significance |
| rs2552125659 | 3:52,830,602 | G/A | — | uncertain significance |
| rs757342819 | 3:52,830,633 | C/A | — | uncertain significance |
| rs770535549 | 3:52,830,765 | G/A | — | uncertain significance |
| rs1309075809 | 3:52,830,790 | A/C | — | uncertain significance |
| rs2240920 | 3:52,831,009 | C/T | downstream gene variant | — |
| rs771958570 | 3:52,831,156 | C/T | — | uncertain significance |
| rs34578278 | 3:52,831,190 | C/T | — | benign |
| rs1362052314 | 3:52,831,242 | T/C | — | uncertain significance |
| rs34352685 | 3:52,831,916 | C/T | synonymous variant | — |
| rs757857469 | 3:52,831,917 | G/A | — | uncertain significance |
| rs1045746634 | 3:52,831,939 | G/C | — | uncertain significance |
| rs373638980 | 3:52,833,019 | G/A | — | uncertain significance |
| rs199634029 | 3:52,833,078 | G/A | — | uncertain significance |
| rs2552126309 | 3:52,833,093 | C/T | — | uncertain significance |
| rs2535629 | 3:52,833,219 | G/C | — | — |
| rs902415072 | 3:52,833,395 | A/G | — | uncertain significance |
| rs375241452 | 3:52,833,469 | A/T | — | uncertain significance |
| rs546752822 | 3:52,833,490 | C/T | — | uncertain significance |
| rs765314854 | 3:52,833,491 | G/A | — | uncertain significance |
| rs3617 | 3:52,833,805 | C/A | — | benign |
| rs74587399 | 3:52,833,885 | C/T | — | benign |
| rs1559471576 | 3:52,834,569 | A/T | — | uncertain significance |
| rs201231777 | 3:52,834,626 | C/G | — | uncertain significance |
| rs201898860 | 3:52,834,667 | G/A | — | uncertain significance |
| rs779630135 | 3:52,834,995 | G/A | — | uncertain significance |
| rs747277776 | 3:52,835,097 | G/T | — | uncertain significance |
| rs199816198 | 3:52,835,122 | G/A | — | uncertain significance |
| rs736408 | 3:52,835,354 | C/T | intron variant | — |
| rs374128036 | 3:52,836,384 | C/T | — | uncertain significance |
| rs2552127262 | 3:52,836,485 | C/A | — | uncertain significance |
| rs368235477 | 3:52,836,494 | G/C | — | uncertain significance |
| rs1044504943 | 3:52,836,502 | G/C | — | uncertain significance |
| rs774451347 | 3:52,836,522 | T/G | — | uncertain significance |
| rs74320783 | 3:52,836,533 | G/A | — | benign |
| rs755688740 | 3:52,836,755 | T/C | — | uncertain significance |
| rs776838700 | 3:52,836,788 | G/T | — | uncertain significance |
| rs1351604939 | 3:52,836,789 | C/A | — | uncertain significance |
| rs146710819 | 3:52,836,800 | A/G | — | uncertain significance |
| rs4481150 | 3:52,837,793 | T/C | intron variant | — |
| rs749806688 | 3:52,837,887 | G/A | — | uncertain significance |
| rs368868035 | 3:52,837,909 | C/A | — | uncertain significance |
| rs4687552 | 3:52,838,402 | T/A | — | — |
| rs72954390 | 3:52,839,744 | C/T | intron variant | — |
| rs372942058 | 3:52,839,833 | T/C | — | uncertain significance |
| rs200538783 | 3:52,840,142 | C/G | — | uncertain significance |
| rs763054711 | 3:52,840,151 | T/C | — | uncertain significance |
| rs763781752 | 3:52,840,314 | G/C | — | uncertain significance |
| rs747148462 | 3:52,840,399 | G/A | — | uncertain significance |
| rs770279625 | 3:52,840,414 | C/T | — | uncertain significance |
| rs752427005 | 3:52,840,931 | G/T | — | uncertain significance |
| rs768747970 | 3:52,841,005 | C/T | — | likely benign |
| rs765105261 | 3:52,841,043 | C/T | — | uncertain significance |
| rs780336145 | 3:52,841,099 | A/G | — | uncertain significance |
| rs9883888 | 3:52,841,111 | A/G | — | benign |
| rs13059141 | 3:52,841,220 | G/A | intron variant | — |
| rs377490145 | 3:52,841,767 | T/A | — | uncertain significance |
| rs745489214 | 3:52,841,824 | G/A | — | uncertain significance |
| rs760955000 | 3:52,841,857 | C/G | — | uncertain significance |
| rs377425862 | 3:52,841,903 | G/A | — | uncertain significance |
| rs1700123831 | 3:52,842,165 | T/A | — | uncertain significance |
| rs200179055 | 3:52,842,167 | C/T | — | uncertain significance |
| rs2552128783 | 3:52,842,183 | C/T | — | uncertain significance |
| rs2710329 | 3:52,842,597 | C/T | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.