COL12A1
collagen type XII alpha 1 chain
Summary
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants2,734 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs80299357 | 6:75,796,053 | A/C | — | benign |
| rs114679644 | 6:75,796,247 | C/A | — | likely benign |
| rs2149321114 | 6:75,796,257 | A/G | — | uncertain significance |
| rs746453262 | 6:75,796,268 | C/T | — | conflicting classifications of pathogenicity |
| rs375094592 | 6:75,796,269 | G/A | — | conflicting classifications of pathogenicity |
| rs776138916 | 6:75,796,270 | G/A | — | uncertain significance |
| rs763434722 | 6:75,796,284 | T/C | — | likely benign |
| rs1767498861 | 6:75,796,292 | G/T | — | likely benign |
| rs9443152 | 6:75,796,474 | G/T | — | benign |
| rs763341868 | 6:75,797,273 | C/T | — | likely benign |
| rs867032927 | 6:75,797,275 | A/G | — | likely benign |
| rs2533013721 | 6:75,797,277 | A/G | — | likely benign |
| rs1477952944 | 6:75,797,282 | C/T | — | likely benign |
| rs758519964 | 6:75,797,288 | C/T | — | uncertain significance |
| rs774985994 | 6:75,797,289 | G/C | — | uncertain significance |
| rs2533013906 | 6:75,797,296 | G/A | — | uncertain significance |
| rs2149322660 | 6:75,797,298 | T/C | — | uncertain significance |
| rs970547 | 6:75,797,302 | C/T | missense variant | benign |
| rs1002433115 | 6:75,797,305 | G/A | — | conflicting classifications of pathogenicity |
| rs2533014118 | 6:75,797,306 | C/T | — | likely benign |
| rs751344618 | 6:75,797,308 | C/T | — | conflicting classifications of pathogenicity |
| rs369646700 | 6:75,797,309 | G/A | — | likely benign |
| rs35292916 | 6:75,797,312 | G/A | — | benign |
| rs1218320074 | 6:75,797,325 | G/T | — | uncertain significance |
| rs1268620135 | 6:75,797,328 | C/T | — | uncertain significance |
| rs57396313 | 6:75,797,330 | C/G | — | conflicting classifications of pathogenicity |
| rs779895718 | 6:75,797,331 | T/G | — | conflicting classifications of pathogenicity |
| rs1131691933 | 6:75,797,332 | G/A | — | conflicting classifications of pathogenicity |
| rs751471471 | 6:75,797,340 | T/A | — | uncertain significance |
| rs2149322777 | 6:75,797,344 | A/C | — | uncertain significance |
| rs1767566470 | 6:75,797,352 | G/A | — | uncertain significance |
| rs1239982144 | 6:75,797,355 | G/A | — | likely benign |
| rs2533014603 | 6:75,797,359 | C/T | — | uncertain significance |
| rs370090007 | 6:75,797,364 | G/A | — | uncertain significance |
| rs201412621 | 6:75,797,365 | G/A | — | uncertain significance |
| rs777425494 | 6:75,797,366 | T/C | — | likely benign |
| rs2533014825 | 6:75,797,367 | C/T | — | uncertain significance |
| rs749005420 | 6:75,797,370 | C/T | — | conflicting classifications of pathogenicity |
| rs2533014920 | 6:75,797,382 | T/C | — | uncertain significance |
| rs1448973629 | 6:75,797,390 | A/G | — | likely benign |
| rs41266761 | 6:75,797,391 | C/T | — | conflicting classifications of pathogenicity |
| rs1767569916 | 6:75,797,392 | G/A | — | uncertain significance |
| rs760094440 | 6:75,797,393 | G/A | — | benign |
| rs1767570608 | 6:75,797,397 | G/A | — | uncertain significance |
| rs376189614 | 6:75,797,398 | G/C | — | conflicting classifications of pathogenicity |
| rs1269857085 | 6:75,797,400 | G/T | — | uncertain significance |
| rs560180665 | 6:75,797,401 | G/A | — | uncertain significance |
| rs572512247 | 6:75,797,402 | G/A | — | conflicting classifications of pathogenicity |
| rs2533015150 | 6:75,797,403 | C/T | — | likely pathogenic |
| rs200901687 | 6:75,797,410 | G/A | — | conflicting classifications of pathogenicity |
| rs1307746550 | 6:75,797,419 | A/G | — | uncertain significance |
| rs2149322991 | 6:75,797,421 | C/T | — | likely pathogenic |
| rs1767573014 | 6:75,797,424 | G/A | — | uncertain significance |
| rs374037516 | 6:75,797,426 | G/A | — | likely benign |
| rs751306147 | 6:75,797,433 | G/A | — | likely benign |
| rs754761310 | 6:75,797,435 | T/G | — | likely benign |
| rs376161354 | 6:75,797,436 | G/A | — | uncertain significance |
| rs1767574420 | 6:75,797,442 | G/A | — | uncertain significance |
| rs1767574773 | 6:75,797,460 | G/A | — | uncertain significance |
| rs370683755 | 6:75,797,471 | G/A | — | likely benign |
| rs1336319358 | 6:75,797,483 | A/T | — | likely benign |
| rs2273264 | 6:75,797,549 | A/G | — | likely benign |
| rs9447441 | 6:75,798,589 | C/T | — | benign |
| rs672648 | 6:75,798,722 | C/A | — | benign |
| rs767271392 | 6:75,798,807 | T/C | — | benign |
| rs756044625 | 6:75,798,816 | A/C | — | uncertain significance |
| rs2533023728 | 6:75,798,817 | C/T | — | uncertain significance |
| rs2149325295 | 6:75,798,818 | C/G | — | uncertain significance |
| rs2533023759 | 6:75,798,820 | A/G | — | uncertain significance |
| rs184663595 | 6:75,798,826 | G/A | — | likely benign |
| rs756855399 | 6:75,798,828 | G/A | — | uncertain significance |
| rs1281725784 | 6:75,798,829 | G/T | — | likely benign |
| rs1321003013 | 6:75,798,838 | C/T | — | likely benign |
| rs778638053 | 6:75,798,842 | C/T | — | uncertain significance |
| rs757075255 | 6:75,798,843 | G/A | — | conflicting classifications of pathogenicity |
| rs34846477 | 6:75,798,852 | A/G | — | likely benign |
| rs190501064 | 6:75,798,862 | A/G | — | likely benign |
| rs2533024364 | 6:75,798,878 | T/C | — | uncertain significance |
| rs1767642101 | 6:75,798,879 | C/T | — | uncertain significance |
| rs1767642437 | 6:75,798,886 | C/A | — | uncertain significance |
| rs777153936 | 6:75,798,895 | G/T | — | likely benign |
| rs947201783 | 6:75,798,904 | A/C | — | likely benign |
| rs74728897 | 6:75,799,642 | A/G | — | benign |
| rs368092763 | 6:75,799,808 | G/A | — | benign |
| rs918793352 | 6:75,799,810 | A/G | — | likely benign |
| rs1362916160 | 6:75,799,812 | C/G | — | likely benign |
| rs2533030614 | 6:75,799,828 | C/T | — | uncertain significance |
| rs1400969919 | 6:75,799,829 | G/A | — | conflicting classifications of pathogenicity |
| rs372365979 | 6:75,799,830 | T/C | — | likely benign |
| rs2149326774 | 6:75,799,836 | A/G | — | likely benign |
| rs1310755474 | 6:75,799,838 | G/T | — | uncertain significance |
| rs748714098 | 6:75,799,840 | G/T | — | uncertain significance |
| rs190820180 | 6:75,799,842 | T/C | — | benign |
| rs2533030888 | 6:75,799,845 | C/G | — | uncertain significance |
| rs2149326803 | 6:75,799,851 | C/T | — | likely benign |
| rs1582030236 | 6:75,799,852 | C/T | — | uncertain significance |
| rs1767686939 | 6:75,799,855 | G/T | — | uncertain significance |
| rs181007051 | 6:75,799,863 | C/T | — | likely benign |
| rs771010070 | 6:75,799,864 | G/A | — | uncertain significance |
| rs1216270127 | 6:75,799,865 | G/A | — | uncertain significance |
Showing 100 of 2,734 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.