COL16A1
collagen type XVI alpha 1 chain
Summary
This gene encodes the alpha chain of type XVI collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Members of this collagen family are found in association with fibril-forming collagens such as type I and II, and serve to maintain the integrity of the extracellular matrix. High levels of type XVI collagen have been found in fibroblasts and keratinocytes, and in smooth muscle and amnion. [provided by RefSeq, Jul 2008]
Known Variants102 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs781577747 | 1:32,119,245 | T/C | — | uncertain significance |
| rs148785521 | 1:32,119,581 | C/A | — | uncertain significance |
| rs201772427 | 1:32,120,944 | G/A | — | uncertain significance |
| rs199551630 | 1:32,121,026 | C/G | — | uncertain significance |
| rs370207674 | 1:32,122,006 | G/T | — | uncertain significance |
| rs763522147 | 1:32,124,109 | G/A | — | uncertain significance |
| rs1489620645 | 1:32,124,153 | G/A | — | uncertain significance |
| rs778065260 | 1:32,124,162 | C/T | — | uncertain significance |
| rs1226342274 | 1:32,124,517 | C/A | — | uncertain significance |
| rs371192634 | 1:32,124,540 | G/A | — | uncertain significance |
| rs769525228 | 1:32,126,196 | G/A | — | uncertain significance |
| rs764024407 | 1:32,127,262 | G/A | — | uncertain significance |
| rs758105946 | 1:32,127,270 | C/T | — | uncertain significance |
| rs771827039 | 1:32,127,938 | C/G | — | uncertain significance |
| rs1346083523 | 1:32,127,964 | C/A | — | uncertain significance |
| rs925983562 | 1:32,128,223 | C/G | — | uncertain significance |
| rs751693965 | 1:32,128,243 | C/T | — | uncertain significance |
| rs377751600 | 1:32,130,795 | G/A | — | uncertain significance |
| rs749874505 | 1:32,130,820 | G/A | — | uncertain significance |
| rs750627702 | 1:32,131,488 | C/T | — | uncertain significance |
| rs745865843 | 1:32,131,667 | C/T | — | uncertain significance |
| rs371196754 | 1:32,133,776 | G/A | — | uncertain significance |
| rs773451673 | 1:32,134,431 | G/A | — | uncertain significance |
| rs192291983 | 1:32,134,444 | C/G | — | uncertain significance |
| rs1042292548 | 1:32,136,229 | C/T | — | uncertain significance |
| rs372854054 | 1:32,137,235 | G/A | — | uncertain significance |
| rs746260551 | 1:32,137,256 | G/A | — | uncertain significance |
| rs951867313 | 1:32,138,219 | C/T | — | uncertain significance |
| rs2522693671 | 1:32,138,228 | G/A | — | uncertain significance |
| rs372484590 | 1:32,138,330 | C/A | — | uncertain significance |
| rs141225372 | 1:32,138,561 | C/A | — | — |
| rs146799146 | 1:32,145,415 | G/T | — | benign |
| rs1643509294 | 1:32,145,645 | G/A | — | uncertain significance |
| rs1239150473 | 1:32,145,646 | C/T | — | uncertain significance |
| rs749719318 | 1:32,145,660 | T/C | — | likely benign |
| rs771449152 | 1:32,145,663 | G/A | — | uncertain significance |
| rs1365651172 | 1:32,145,677 | G/T | — | uncertain significance |
| rs1643586027 | 1:32,146,511 | C/G | — | uncertain significance |
| rs774050669 | 1:32,148,552 | T/C | — | uncertain significance |
| rs1192825970 | 1:32,148,566 | C/G | — | uncertain significance |
| rs1367170802 | 1:32,148,804 | C/A | — | uncertain significance |
| rs1298824887 | 1:32,148,848 | C/T | — | uncertain significance |
| rs756480009 | 1:32,149,583 | C/T | — | uncertain significance |
| rs374256953 | 1:32,149,712 | G/T | — | uncertain significance |
| rs547294000 | 1:32,149,742 | C/T | — | uncertain significance |
| rs754602510 | 1:32,149,772 | G/T | — | uncertain significance |
| rs369029210 | 1:32,149,774 | C/T | — | uncertain significance |
| rs777462646 | 1:32,149,787 | C/T | — | likely benign |
| rs749037846 | 1:32,150,137 | G/A | — | uncertain significance |
| rs199769518 | 1:32,150,143 | G/C | — | uncertain significance |
| rs2522975330 | 1:32,150,151 | C/T | — | likely benign |
| rs561814177 | 1:32,150,165 | C/T | — | uncertain significance |
| rs375296168 | 1:32,150,436 | G/T | — | uncertain significance |
| rs1161672841 | 1:32,150,451 | C/T | — | uncertain significance |
| rs756540297 | 1:32,151,368 | C/T | — | uncertain significance |
| rs377375082 | 1:32,154,091 | C/T | — | uncertain significance |
| rs757109752 | 1:32,154,096 | G/A | — | likely benign |
| rs1051425964 | 1:32,154,475 | A/G | — | uncertain significance |
| rs758745879 | 1:32,154,542 | C/A | — | uncertain significance |
| rs565116526 | 1:32,154,562 | C/T | — | uncertain significance |
| rs915879255 | 1:32,154,669 | T/G | — | uncertain significance |
| rs766497536 | 1:32,155,398 | C/G | — | uncertain significance |
| rs148862191 | 1:32,155,452 | C/A | — | uncertain significance |
| rs368321925 | 1:32,156,799 | T/C | — | uncertain significance |
| rs1394952329 | 1:32,156,802 | G/A | — | uncertain significance |
| rs764971839 | 1:32,157,038 | T/C | — | uncertain significance |
| rs77868621 | 1:32,157,248 | G/C | — | benign |
| rs2523169196 | 1:32,157,651 | C/G | — | uncertain significance |
| rs115606583 | 1:32,158,076 | T/C | — | likely benign |
| rs376073288 | 1:32,158,080 | C/T | — | uncertain significance |
| rs2523179104 | 1:32,158,091 | C/T | — | uncertain significance |
| rs200935948 | 1:32,158,107 | G/A | — | uncertain significance |
| rs759332183 | 1:32,158,200 | A/G | — | uncertain significance |
| rs202239630 | 1:32,158,204 | C/T | — | uncertain significance |
| rs2523182885 | 1:32,158,218 | T/C | — | uncertain significance |
| rs530589424 | 1:32,158,227 | T/C | — | uncertain significance |
| rs550310157 | 1:32,158,230 | G/A | — | uncertain significance |
| rs200284061 | 1:32,158,695 | G/A | — | uncertain significance |
| rs189190050 | 1:32,159,781 | C/T | — | likely benign |
| rs375383196 | 1:32,162,599 | G/A | — | uncertain significance |
| rs1412910463 | 1:32,162,651 | C/A | — | uncertain significance |
| rs1484307108 | 1:32,162,668 | C/T | — | uncertain significance |
| rs375616337 | 1:32,162,859 | C/T | — | uncertain significance |
| rs771977028 | 1:32,162,867 | G/A | — | uncertain significance |
| rs747118131 | 1:32,162,877 | A/G | — | uncertain significance |
| rs771435558 | 1:32,163,517 | T/C | — | uncertain significance |
| rs765181659 | 1:32,163,556 | A/G | — | uncertain significance |
| rs1644572386 | 1:32,163,604 | C/T | — | uncertain significance |
| rs183118523 | 1:32,163,632 | G/A | — | uncertain significance |
| rs1217233272 | 1:32,163,635 | C/T | — | uncertain significance |
| rs1002445967 | 1:32,163,643 | C/G | — | uncertain significance |
| rs766261241 | 1:32,163,742 | C/T | — | uncertain significance |
| rs2297674 | 1:32,163,950 | G/C | intron variant | — |
| rs1228135194 | 1:32,164,106 | G/A | — | uncertain significance |
| rs2228550 | 1:32,164,206 | T/A | stop gained | — |
| rs41263975 | 1:32,165,417 | G/A | — | uncertain significance |
| rs749342443 | 1:32,165,439 | C/T | — | uncertain significance |
| rs774365555 | 1:32,165,448 | G/A | — | uncertain significance |
| rs199881394 | 1:32,165,463 | C/T | — | uncertain significance |
| rs2228552 | 1:32,165,495 | T/G | — | benign |
Showing 100 of 102 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.