COL14A1
collagen type XIV alpha 1 chain
Summary
This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]
Known Variants197 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs141512179 | 8:121,140,473 | T/A | — | — |
| rs558002155 | 8:121,159,409 | G/A | — | — |
| rs6995843 | 8:121,159,867 | C/T | — | benign |
| rs9642848 | 8:121,160,097 | C/T | — | likely benign |
| rs1441180407 | 8:121,160,140 | T/C | — | likely benign |
| rs4398968 | 8:121,170,200 | G/T | — | benign |
| rs1475170135 | 8:121,170,384 | G/A | — | uncertain significance |
| rs551300076 | 8:121,170,401 | A/G | — | uncertain significance |
| rs146249434 | 8:121,170,427 | A/G | — | benign |
| rs1279683780 | 8:121,170,432 | A/G | — | uncertain significance |
| rs35420329 | 8:121,170,803 | G/A | — | benign |
| rs554596714 | 8:121,174,734 | A/G | — | benign |
| rs768406600 | 8:121,174,767 | A/G | — | uncertain significance |
| rs368330743 | 8:121,174,778 | G/A | — | uncertain significance |
| rs200392262 | 8:121,174,801 | A/G | — | benign |
| rs11987656 | 8:121,174,837 | C/G | — | benign |
| rs763214078 | 8:121,180,424 | A/T | — | uncertain significance |
| rs56122736 | 8:121,180,664 | G/A | — | benign |
| rs2198751 | 8:121,180,667 | C/T | — | benign |
| rs2305597 | 8:121,209,000 | C/A | — | benign |
| rs61729463 | 8:121,209,041 | G/C | — | benign |
| rs1817054945 | 8:121,209,117 | G/C | — | uncertain significance |
| rs763832906 | 8:121,209,158 | G/A | — | likely benign |
| rs1229678049 | 8:121,209,163 | G/A | — | likely benign |
| rs7015242 | 8:121,209,391 | C/T | — | benign |
| rs2305598 | 8:121,210,069 | T/C | synonymous variant | benign |
| rs867730623 | 8:121,210,133 | C/T | — | uncertain significance |
| rs2488746906 | 8:121,210,158 | A/G | — | uncertain significance |
| rs2305599 | 8:121,210,250 | C/T | — | benign |
| rs73327330 | 8:121,211,569 | G/A | — | benign |
| rs113817413 | 8:121,211,762 | A/G | — | likely benign |
| rs2326483 | 8:121,211,847 | C/T | — | benign |
| rs61754508 | 8:121,215,974 | C/T | — | benign |
| rs2305600 | 8:121,215,991 | T/C | synonymous variant | benign |
| rs760992334 | 8:121,216,016 | A/G | — | uncertain significance |
| rs200988111 | 8:121,216,092 | A/G | — | uncertain significance |
| rs10955961 | 8:121,218,601 | T/A | — | — |
| rs111359440 | 8:121,218,967 | T/C | — | benign |
| rs1586765741 | 8:121,219,185 | C/T | — | uncertain significance |
| rs770887482 | 8:121,219,206 | C/A | — | uncertain significance |
| rs781132164 | 8:121,219,330 | C/T | — | likely benign |
| rs10955962 | 8:121,219,597 | A/T | — | benign |
| rs3765062 | 8:121,220,395 | G/A | — | benign |
| rs61754504 | 8:121,220,518 | G/A | — | likely benign |
| rs777961950 | 8:121,220,595 | C/G | — | uncertain significance |
| rs10505377 | 8:121,221,871 | C/G | — | benign |
| rs61753752 | 8:121,222,046 | G/A | — | likely benign |
| rs1254956639 | 8:121,222,063 | G/A | — | likely benign |
| rs775692996 | 8:121,222,126 | G/C | — | uncertain significance |
| rs200507215 | 8:121,224,781 | A/C | — | likely benign |
| rs755890460 | 8:121,224,787 | G/A | — | uncertain significance |
| rs114701864 | 8:121,224,800 | G/A | — | likely benign |
| rs145059457 | 8:121,228,613 | C/T | — | likely benign |
| rs4870723 | 8:121,228,679 | A/C | missense variant | benign |
| rs147637870 | 8:121,228,738 | C/T | — | likely benign |
| rs4870724 | 8:121,229,023 | T/G | — | benign |
| rs147360285 | 8:121,237,369 | A/T | — | uncertain significance |
| rs1869833 | 8:121,238,546 | A/T | — | benign |
| rs116603414 | 8:121,238,881 | A/C | — | conflicting classifications of pathogenicity |
| rs2488853803 | 8:121,238,961 | C/G | — | uncertain significance |
| rs1563683012 | 8:121,238,986 | A/G | — | uncertain significance |
| rs2488855918 | 8:121,239,460 | T/C | — | uncertain significance |
| rs1459900527 | 8:121,239,514 | C/T | — | uncertain significance |
| rs61753754 | 8:121,239,515 | G/A | — | benign |
| rs550630676 | 8:121,239,537 | G/A | — | uncertain significance |
| rs1993392 | 8:121,240,646 | G/A | — | benign |
| rs2305602 | 8:121,240,812 | G/A | — | benign |
| rs114262403 | 8:121,243,738 | G/A | — | benign |
| rs1405494496 | 8:121,243,817 | T/A | — | uncertain significance |
| rs2290519 | 8:121,244,066 | C/T | — | benign |
| rs7842055 | 8:121,244,089 | G/T | — | benign |
| rs200381768 | 8:121,256,141 | C/A | — | uncertain significance |
| rs2305603 | 8:121,256,150 | T/C | synonymous variant | benign |
| rs781373851 | 8:121,256,173 | C/T | — | uncertain significance |
| rs148241340 | 8:121,256,206 | C/T | — | uncertain significance |
| rs2305604 | 8:121,259,843 | T/C | — | benign |
| rs2305605 | 8:121,259,862 | G/A | — | benign |
| rs767598820 | 8:121,259,873 | A/G | — | uncertain significance |
| rs115276090 | 8:121,259,902 | C/T | — | likely benign |
| rs61738288 | 8:121,259,922 | C/T | — | benign |
| rs745364328 | 8:121,259,927 | C/T | — | uncertain significance |
| rs1162292969 | 8:121,259,933 | C/T | — | uncertain significance |
| rs2305606 | 8:121,259,936 | C/T | — | benign |
| rs116034542 | 8:121,260,020 | T/G | — | benign |
| rs2305607 | 8:121,262,775 | A/G | — | benign |
| rs370767766 | 8:121,262,846 | T/C | — | likely benign |
| rs2488072174 | 8:121,262,889 | C/T | — | uncertain significance |
| rs1446561632 | 8:121,262,932 | G/T | — | uncertain significance |
| rs1351123976 | 8:121,262,958 | C/T | — | uncertain significance |
| rs113536778 | 8:121,262,977 | C/T | — | likely benign |
| rs2488073833 | 8:121,263,002 | A/C | — | uncertain significance |
| rs144967860 | 8:121,263,076 | T/C | — | benign |
| rs7813903 | 8:121,263,125 | C/A | — | benign |
| rs62527023 | 8:121,263,132 | C/T | — | benign |
| rs11774228 | 8:121,267,490 | A/G | — | likely benign |
| rs1287756119 | 8:121,267,574 | G/T | — | uncertain significance |
| rs141272095 | 8:121,267,581 | T/C | — | likely benign |
| rs368987035 | 8:121,267,593 | A/G | — | uncertain significance |
| rs993823 | 8:121,267,617 | C/T | — | benign |
| rs78572620 | 8:121,267,729 | A/G | — | benign |
Showing 100 of 197 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.