C9
complement C9
Summary
This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
Known Variants284 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138480043 | 5:39,285,311 | T/C | — | uncertain significance |
| rs762407914 | 5:39,285,322 | T/C | — | likely benign |
| rs141471456 | 5:39,285,338 | A/G | — | benign |
| rs1336740355 | 5:39,285,345 | A/G | — | likely benign |
| rs1752970940 | 5:39,285,349 | A/G | — | likely benign |
| rs138453906 | 5:39,285,848 | A/T | intron variant | — |
| rs2111835657 | 5:39,288,807 | C/A | — | likely benign |
| rs377753602 | 5:39,288,808 | A/G | — | likely benign |
| rs188064532 | 5:39,288,809 | A/C | — | likely benign |
| rs700180 | 5:39,288,811 | T/C | — | benign |
| rs1007500156 | 5:39,288,817 | G/T | — | likely benign |
| rs1017675943 | 5:39,288,820 | C/T | — | uncertain significance |
| rs2479154859 | 5:39,288,841 | T/C | — | likely benign |
| rs988475156 | 5:39,288,843 | T/C | — | uncertain significance |
| rs773166568 | 5:39,288,844 | A/G | — | likely benign |
| rs1753036701 | 5:39,288,861 | T/C | — | uncertain significance |
| rs374608279 | 5:39,288,879 | G/A | — | uncertain significance |
| rs1355108304 | 5:39,288,883 | G/A | — | likely benign |
| rs137891079 | 5:39,288,885 | C/T | — | conflicting classifications of pathogenicity |
| rs2111835976 | 5:39,288,887 | C/T | — | pathogenic |
| rs756543581 | 5:39,288,934 | T/A | — | likely benign |
| rs1305232962 | 5:39,288,952 | A/G | — | likely benign |
| rs372013922 | 5:39,288,957 | A/G | — | uncertain significance |
| rs1579835520 | 5:39,288,959 | T/A | — | uncertain significance |
| rs189917912 | 5:39,288,965 | A/G | — | uncertain significance |
| rs2111836289 | 5:39,288,978 | T/C | — | uncertain significance |
| rs1269774598 | 5:39,288,980 | G/A | — | uncertain significance |
| rs1753040219 | 5:39,288,993 | T/C | — | uncertain significance |
| rs1753040628 | 5:39,289,008 | G/A | — | uncertain significance |
| rs145969667 | 5:39,289,019 | A/T | — | conflicting classifications of pathogenicity |
| rs139889293 | 5:39,289,042 | T/C | — | uncertain significance |
| rs141645272 | 5:39,289,043 | A/G | — | likely benign |
| rs2111836531 | 5:39,289,046 | G/A | — | uncertain significance |
| rs2111836579 | 5:39,289,060 | G/T | — | likely benign |
| rs1376484852 | 5:39,289,066 | A/C | — | likely benign |
| rs1196010776 | 5:39,306,709 | C/T | — | likely benign |
| rs780641584 | 5:39,306,710 | G/A | — | likely benign |
| rs2479164529 | 5:39,306,715 | T/C | — | uncertain significance |
| rs749219612 | 5:39,306,733 | G/A | — | uncertain significance |
| rs201909611 | 5:39,306,734 | A/C | — | benign |
| rs752668931 | 5:39,306,736 | C/A | — | uncertain significance |
| rs984436339 | 5:39,306,741 | G/A | — | uncertain significance |
| rs2479164555 | 5:39,306,743 | A/C | — | uncertain significance |
| rs760939510 | 5:39,306,756 | G/T | — | uncertain significance |
| rs1016438634 | 5:39,306,762 | C/T | — | pathogenic |
| rs201784563 | 5:39,306,775 | C/T | — | uncertain significance |
| rs369139477 | 5:39,306,789 | A/G | — | uncertain significance |
| rs374259433 | 5:39,306,790 | C/T | — | uncertain significance |
| rs1366887364 | 5:39,306,791 | G/C | — | likely benign |
| rs754943606 | 5:39,306,799 | G/A | — | pathogenic |
| rs1382253641 | 5:39,306,806 | C/T | — | likely benign |
| rs2111876683 | 5:39,306,814 | T/A | — | pathogenic |
| rs2479164616 | 5:39,306,816 | A/C | — | uncertain significance |
| rs773337966 | 5:39,306,824 | T/C | — | likely benign |
| rs2479164644 | 5:39,306,850 | T/C | — | uncertain significance |
| rs146228410 | 5:39,306,851 | G/T | — | likely benign |
| rs776882576 | 5:39,306,853 | G/A | — | likely benign |
| rs121909594 | 5:39,306,855 | G/C | stop gained | pathogenic |
| rs34421659 | 5:39,306,856 | A/T | — | likely benign |
| rs2479164655 | 5:39,306,861 | A/G | — | uncertain significance |
| rs201814882 | 5:39,306,862 | C/T | — | uncertain significance |
| rs868081502 | 5:39,306,901 | A/T | — | conflicting classifications of pathogenicity |
| rs1449507507 | 5:39,306,906 | A/G | — | likely benign |
| rs369873523 | 5:39,308,313 | C/A | — | likely benign |
| rs142654382 | 5:39,308,330 | A/G | — | uncertain significance |
| rs1753415107 | 5:39,308,339 | A/C | — | likely benign |
| rs775963620 | 5:39,308,344 | C/G | — | uncertain significance |
| rs527488079 | 5:39,308,359 | A/G | — | uncertain significance |
| rs748469015 | 5:39,308,368 | T/C | — | uncertain significance |
| rs1319236276 | 5:39,308,371 | T/C | — | uncertain significance |
| rs758290425 | 5:39,308,383 | C/A | — | pathogenic |
| rs746131219 | 5:39,308,409 | G/T | — | uncertain significance |
| rs1011715944 | 5:39,308,421 | T/A | — | uncertain significance |
| rs868750791 | 5:39,308,422 | G/C | — | likely benign |
| rs552350601 | 5:39,308,423 | A/G | — | likely benign |
| rs774868510 | 5:39,308,426 | C/T | — | likely benign |
| rs1753418172 | 5:39,308,445 | T/G | — | uncertain significance |
| rs1266509994 | 5:39,308,449 | T/G | — | uncertain significance |
| rs2111880498 | 5:39,308,458 | C/A | — | uncertain significance |
| rs1753418418 | 5:39,308,460 | C/G | — | uncertain significance |
| rs67187255 | 5:39,310,588 | A/G | intron variant | — |
| rs769127016 | 5:39,311,220 | G/A | — | likely benign |
| rs200262518 | 5:39,311,226 | T/C | — | likely benign |
| rs745342645 | 5:39,311,239 | C/G | — | uncertain significance |
| rs769441512 | 5:39,311,244 | C/T | — | uncertain significance |
| rs149784324 | 5:39,311,245 | G/A | — | uncertain significance |
| rs763988049 | 5:39,311,246 | C/T | — | likely benign |
| rs1467050467 | 5:39,311,251 | T/C | — | uncertain significance |
| rs761829607 | 5:39,311,256 | G/A | — | uncertain significance |
| rs1753475160 | 5:39,311,258 | T/G | — | uncertain significance |
| rs2479167163 | 5:39,311,272 | A/G | — | uncertain significance |
| rs35460483 | 5:39,311,285 | G/C | — | benign |
| rs2111886725 | 5:39,311,297 | A/G | — | likely benign |
| rs748414247 | 5:39,311,298 | G/A | — | uncertain significance |
| rs1579850133 | 5:39,311,300 | C/T | — | likely benign |
| rs1003892421 | 5:39,311,312 | G/A | — | likely benign |
| rs2111886842 | 5:39,311,315 | G/T | — | uncertain significance |
| rs773133139 | 5:39,311,320 | T/C | — | uncertain significance |
| rs1015551725 | 5:39,311,335 | A/G | — | likely benign |
| rs141600725 | 5:39,311,336 | A/T | — | likely benign |
Showing 100 of 284 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.