COL6A6
collagen type VI alpha 6 chain
Summary
This gene encodes a large protein that contains multiple von Willebrand factor domains and forms a component of the basal lamina of epithelial cells. This protein may regulate epithelial cell-fibronectin interactions. Variation in this gene may be implicated in skin diseases. [provided by RefSeq, May 2017]
Known Variants196 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs561417389 | 3:130,243,473 | C/T | — | — |
| rs369546804 | 3:130,279,249 | A/T | — | uncertain significance |
| rs76315272 | 3:130,279,271 | C/T | — | benign |
| rs574029624 | 3:130,281,912 | G/A | — | uncertain significance |
| rs201898554 | 3:130,281,956 | C/T | — | uncertain significance |
| rs200502168 | 3:130,282,040 | C/T | — | uncertain significance |
| rs2062934727 | 3:130,282,047 | C/T | — | uncertain significance |
| rs527993234 | 3:130,282,056 | A/G | — | uncertain significance |
| rs201577074 | 3:130,282,112 | C/A | — | uncertain significance |
| rs753387960 | 3:130,282,170 | G/A | — | uncertain significance |
| rs757601806 | 3:130,282,208 | G/A | — | uncertain significance |
| rs746030029 | 3:130,282,211 | C/T | — | uncertain significance |
| rs1376915332 | 3:130,282,247 | A/G | — | uncertain significance |
| rs2472875913 | 3:130,282,290 | A/G | — | uncertain significance |
| rs375255284 | 3:130,282,310 | C/T | — | uncertain significance |
| rs113780724 | 3:130,282,311 | G/A | — | likely benign |
| rs768742828 | 3:130,282,317 | A/T | — | uncertain significance |
| rs748065583 | 3:130,282,318 | C/T | — | likely benign |
| rs771893072 | 3:130,282,319 | G/A | — | uncertain significance |
| rs773211435 | 3:130,282,322 | G/A | — | uncertain significance |
| rs1261446032 | 3:130,282,349 | A/G | — | uncertain significance |
| rs754029014 | 3:130,282,378 | G/T | — | uncertain significance |
| rs755030251 | 3:130,282,379 | G/C | — | uncertain significance |
| rs200264014 | 3:130,282,406 | C/T | — | uncertain significance |
| rs185319822 | 3:130,282,407 | G/A | — | benign |
| rs376108254 | 3:130,282,451 | A/T | — | uncertain significance |
| rs2062947242 | 3:130,282,457 | A/C | — | uncertain significance |
| rs202020243 | 3:130,283,909 | T/A | — | uncertain significance |
| rs754669112 | 3:130,283,957 | A/G | — | uncertain significance |
| rs374002251 | 3:130,283,985 | T/C | — | uncertain significance |
| rs139500727 | 3:130,284,063 | T/C | — | benign |
| rs559155372 | 3:130,284,074 | T/C | — | uncertain significance |
| rs529812677 | 3:130,284,077 | C/T | — | uncertain significance |
| rs774730504 | 3:130,284,081 | G/A | — | likely benign |
| rs200753152 | 3:130,284,184 | C/T | — | likely benign |
| rs202178957 | 3:130,284,251 | G/C | — | uncertain significance |
| rs9830253 | 3:130,284,284 | A/G | — | benign |
| rs375204239 | 3:130,284,290 | G/T | — | uncertain significance |
| rs746637496 | 3:130,284,292 | C/A | — | uncertain significance |
| rs199714543 | 3:130,284,399 | G/A | — | uncertain significance |
| rs777747583 | 3:130,285,633 | C/T | — | likely benign |
| rs201682544 | 3:130,285,683 | C/T | — | likely benign |
| rs114818609 | 3:130,285,686 | G/A | — | benign |
| rs143108657 | 3:130,285,883 | C/T | — | benign |
| rs59021909 | 3:130,285,929 | C/T | — | benign |
| rs977334577 | 3:130,285,980 | A/G | — | uncertain significance |
| rs148120219 | 3:130,286,039 | C/T | — | benign |
| rs2472913219 | 3:130,286,095 | G/C | — | uncertain significance |
| rs751111160 | 3:130,286,902 | A/G | — | uncertain significance |
| rs756743043 | 3:130,286,906 | A/C | — | uncertain significance |
| rs777908342 | 3:130,287,020 | G/A | — | uncertain significance |
| rs761428456 | 3:130,287,077 | A/C | — | uncertain significance |
| rs200424705 | 3:130,287,078 | C/A | — | uncertain significance |
| rs61730501 | 3:130,287,096 | C/T | — | benign |
| rs199872103 | 3:130,287,097 | G/A | — | uncertain significance |
| rs751831579 | 3:130,287,112 | A/G | — | uncertain significance |
| rs781401613 | 3:130,287,131 | T/C | — | uncertain significance |
| rs202197374 | 3:130,287,133 | G/C | — | uncertain significance |
| rs201412929 | 3:130,287,137 | A/G | — | uncertain significance |
| rs2472923652 | 3:130,287,166 | T/A | — | uncertain significance |
| rs186411715 | 3:130,287,192 | C/T | — | likely benign |
| rs750521607 | 3:130,287,202 | C/T | — | uncertain significance |
| rs776178739 | 3:130,287,251 | A/G | — | uncertain significance |
| rs200242417 | 3:130,287,274 | G/A | — | likely benign |
| rs760929088 | 3:130,287,283 | C/T | — | uncertain significance |
| rs1255966438 | 3:130,289,670 | C/T | — | uncertain significance |
| rs149727307 | 3:130,289,672 | G/T | — | benign |
| rs770132015 | 3:130,289,682 | T/G | — | uncertain significance |
| rs201487305 | 3:130,289,732 | G/C | — | uncertain significance |
| rs761505499 | 3:130,289,800 | G/A | — | uncertain significance |
| rs1034060439 | 3:130,289,823 | G/C | — | uncertain significance |
| rs764872377 | 3:130,289,859 | G/A | — | uncertain significance |
| rs200252403 | 3:130,289,890 | A/T | — | uncertain significance |
| rs770806258 | 3:130,289,917 | C/T | — | uncertain significance |
| rs768161608 | 3:130,289,967 | C/T | — | uncertain significance |
| rs2472948043 | 3:130,290,040 | A/T | — | uncertain significance |
| rs111457392 | 3:130,290,069 | C/T | — | uncertain significance |
| rs777893741 | 3:130,290,084 | C/A | — | uncertain significance |
| rs745698681 | 3:130,290,105 | G/A | — | uncertain significance |
| rs184500867 | 3:130,290,120 | G/A | — | uncertain significance |
| rs76092030 | 3:130,290,241 | A/T | — | benign |
| rs747792281 | 3:130,292,812 | A/G | — | uncertain significance |
| rs996871671 | 3:130,292,835 | A/T | — | uncertain significance |
| rs753875736 | 3:130,292,907 | G/A | — | uncertain significance |
| rs370108251 | 3:130,292,958 | G/A | — | conflicting classifications of pathogenicity |
| rs368734825 | 3:130,292,971 | C/T | — | uncertain significance |
| rs189967525 | 3:130,292,998 | G/A | — | uncertain significance |
| rs779432682 | 3:130,293,009 | A/G | — | uncertain significance |
| rs759591819 | 3:130,293,060 | G/A | — | uncertain significance |
| rs376651026 | 3:130,293,065 | T/G | — | likely benign |
| rs2472972438 | 3:130,293,155 | T/G | — | uncertain significance |
| rs767177395 | 3:130,293,204 | A/G | — | uncertain significance |
| rs200904266 | 3:130,293,208 | G/A | — | likely benign |
| rs369579926 | 3:130,293,225 | G/A | — | uncertain significance |
| rs777170032 | 3:130,293,306 | G/A | — | uncertain significance |
| rs1176085772 | 3:130,293,321 | G/A | — | uncertain significance |
| rs2063248326 | 3:130,293,322 | T/C | — | uncertain significance |
| rs199892156 | 3:130,293,336 | G/A | — | uncertain significance |
| rs112608083 | 3:130,293,344 | C/T | — | benign |
| rs770646850 | 3:130,293,358 | C/T | — | uncertain significance |
Showing 100 of 196 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.