C6
complement C6
Summary
This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
Known Variants427 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs77732988 | 5:41,142,932 | C/T | — | benign |
| rs541027599 | 5:41,142,939 | C/T | — | likely benign |
| rs2150210012 | 5:41,142,947 | G/A | — | uncertain significance |
| rs2478045298 | 5:41,142,953 | G/A | — | likely benign |
| rs962464460 | 5:41,142,957 | T/G | — | uncertain significance |
| rs771901378 | 5:41,142,990 | C/T | — | likely benign |
| rs2150210279 | 5:41,143,002 | G/C | — | uncertain significance |
| rs776857416 | 5:41,143,033 | A/G | — | uncertain significance |
| rs1052082143 | 5:41,143,036 | T/A | — | uncertain significance |
| rs2150210454 | 5:41,143,042 | C/T | — | uncertain significance |
| rs2150210466 | 5:41,143,043 | A/C | — | uncertain significance |
| rs1745483434 | 5:41,143,052 | G/C | — | uncertain significance |
| rs1745483655 | 5:41,143,054 | T/A | — | uncertain significance |
| rs147238267 | 5:41,143,060 | C/A | — | uncertain significance |
| rs892712339 | 5:41,143,080 | C/A | — | uncertain significance |
| rs2478051036 | 5:41,143,082 | A/G | — | likely benign |
| rs754612623 | 5:41,143,083 | T/C | — | likely benign |
| rs752531730 | 5:41,143,089 | G/A | — | likely benign |
| rs2478051303 | 5:41,143,090 | A/G | — | uncertain significance |
| rs746911042 | 5:41,143,103 | T/C | — | uncertain significance |
| rs770926440 | 5:41,143,106 | A/G | — | uncertain significance |
| rs2478052485 | 5:41,143,109 | C/T | — | likely pathogenic |
| rs775880714 | 5:41,143,113 | A/G | — | likely benign |
| rs1745492490 | 5:41,143,127 | A/T | — | likely benign |
| rs1354265412 | 5:41,149,345 | G/A | — | uncertain significance |
| rs115220610 | 5:41,149,361 | C/T | — | uncertain significance |
| rs1359801395 | 5:41,149,398 | G/A | — | likely benign |
| rs764010525 | 5:41,149,416 | T/C | — | likely benign |
| rs2150230064 | 5:41,149,429 | C/T | — | uncertain significance |
| rs563867936 | 5:41,149,443 | G/A | — | likely benign |
| rs763860114 | 5:41,149,444 | C/T | — | uncertain significance |
| rs187593836 | 5:41,149,445 | G/A | — | uncertain significance |
| rs142836385 | 5:41,149,448 | T/C | — | likely benign |
| rs567176554 | 5:41,149,449 | G/A | — | likely benign |
| rs1746154305 | 5:41,149,456 | C/T | — | uncertain significance |
| rs546595899 | 5:41,149,459 | G/A | — | uncertain significance |
| rs755225517 | 5:41,149,461 | A/C | — | likely benign |
| rs2478191456 | 5:41,149,473 | A/G | — | likely benign |
| rs778459906 | 5:41,149,479 | G/C | — | likely benign |
| rs141740354 | 5:41,149,505 | C/T | — | uncertain significance |
| rs984232765 | 5:41,149,515 | C/T | — | likely benign |
| rs757845909 | 5:41,149,523 | C/T | — | uncertain significance |
| rs766437646 | 5:41,149,524 | G/C | — | likely benign |
| rs61733158 | 5:41,149,531 | G/A | — | likely benign |
| rs752930642 | 5:41,149,540 | T/C | — | uncertain significance |
| rs778212785 | 5:41,149,542 | G/A | — | likely benign |
| rs1039524347 | 5:41,149,589 | C/G | — | likely benign |
| rs2478199689 | 5:41,149,597 | G/A | — | likely benign |
| rs1248018301 | 5:41,149,602 | G/C | — | likely benign |
| rs2150232023 | 5:41,150,028 | A/G | — | likely benign |
| rs201815040 | 5:41,150,030 | C/T | — | likely benign |
| rs76202909 | 5:41,150,035 | A/G | splice region variant | pathogenic |
| rs1462321446 | 5:41,150,048 | T/G | — | uncertain significance |
| rs200371424 | 5:41,150,081 | T/C | — | benign |
| rs754529564 | 5:41,150,083 | G/A | — | pathogenic |
| rs2478216069 | 5:41,150,101 | A/G | — | uncertain significance |
| rs747863914 | 5:41,150,103 | T/C | — | uncertain significance |
| rs370790517 | 5:41,150,106 | C/A | — | uncertain significance |
| rs374161182 | 5:41,150,122 | G/A | — | likely benign |
| rs759338755 | 5:41,150,128 | C/T | — | likely pathogenic |
| rs1344361621 | 5:41,150,140 | A/G | — | likely benign |
| rs758089054 | 5:41,153,894 | C/G | — | likely benign |
| rs777437294 | 5:41,153,895 | A/G | — | likely benign |
| rs769828883 | 5:41,153,911 | C/A | — | likely pathogenic |
| rs76553178 | 5:41,153,914 | T/C | — | benign |
| rs764219528 | 5:41,153,921 | A/G | — | uncertain significance |
| rs774726786 | 5:41,153,929 | G/A | — | uncertain significance |
| rs1227812789 | 5:41,153,960 | C/T | — | uncertain significance |
| rs754292116 | 5:41,153,970 | G/A | — | likely benign |
| rs751233094 | 5:41,154,005 | G/A | — | uncertain significance |
| rs756859933 | 5:41,154,006 | G/A | — | likely benign |
| rs545743707 | 5:41,154,017 | C/T | — | uncertain significance |
| rs143400821 | 5:41,154,042 | T/A | — | uncertain significance |
| rs780173046 | 5:41,154,054 | T/G | — | likely benign |
| rs137874155 | 5:41,154,063 | C/T | — | likely benign |
| rs140825759 | 5:41,154,068 | C/T | — | uncertain significance |
| rs2478305575 | 5:41,154,079 | A/G | — | uncertain significance |
| rs774281612 | 5:41,154,080 | C/T | — | uncertain significance |
| rs375320778 | 5:41,154,084 | C/T | — | likely benign |
| rs759974891 | 5:41,154,097 | G/A | — | uncertain significance |
| rs4957374 | 5:41,154,150 | A/C | intron variant | — |
| rs2067542 | 5:41,154,436 | A/G | intron variant | — |
| rs760817170 | 5:41,155,057 | G/A | — | likely benign |
| rs375922090 | 5:41,155,071 | C/A | — | uncertain significance |
| rs199930769 | 5:41,155,074 | G/T | — | likely pathogenic |
| rs2150247627 | 5:41,155,087 | A/G | — | likely benign |
| rs41271067 | 5:41,155,088 | C/T | — | likely benign |
| rs78888823 | 5:41,155,089 | C/T | — | benign |
| rs2478328573 | 5:41,155,097 | C/A | — | uncertain significance |
| rs150759810 | 5:41,155,103 | G/A | — | uncertain significance |
| rs755014115 | 5:41,155,107 | C/G | — | uncertain significance |
| rs28651920 | 5:41,155,108 | G/A | — | likely benign |
| rs2150247789 | 5:41,155,119 | A/T | — | uncertain significance |
| rs867425110 | 5:41,155,126 | G/C | — | pathogenic |
| rs2478330150 | 5:41,155,136 | C/A | — | uncertain significance |
| rs147228419 | 5:41,155,144 | T/G | — | uncertain significance |
| rs140691326 | 5:41,155,150 | G/A | — | likely benign |
| rs770158255 | 5:41,155,165 | A/C | — | uncertain significance |
| rs763461505 | 5:41,155,172 | A/T | — | uncertain significance |
| rs184169749 | 5:41,155,176 | C/G | — | uncertain significance |
Showing 100 of 427 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.