COL2A1
collagen type II alpha 1 chain
Summary
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants2,153 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886049441 | 12:48,366,784 | T/C | — | uncertain significance |
| rs990523451 | 12:48,366,817 | C/G | — | uncertain significance |
| rs1227723645 | 12:48,366,859 | C/T | — | uncertain significance |
| rs532700241 | 12:48,366,885 | C/T | — | conflicting classifications of pathogenicity |
| rs41272781 | 12:48,366,895 | G/A | — | benign |
| rs558260275 | 12:48,366,955 | G/A | — | likely benign |
| rs867067070 | 12:48,367,032 | G/T | — | uncertain significance |
| rs41272777 | 12:48,367,054 | A/G | — | benign |
| rs886049442 | 12:48,367,059 | G/A | — | uncertain significance |
| rs886049443 | 12:48,367,070 | G/C | — | uncertain significance |
| rs41272775 | 12:48,367,162 | G/A | — | likely benign |
| rs41272773 | 12:48,367,186 | G/A | — | benign |
| rs2540090973 | 12:48,367,190 | T/A | — | uncertain significance |
| rs1592192783 | 12:48,367,191 | T/G | — | uncertain significance |
| rs2540090981 | 12:48,367,192 | A/G | — | uncertain significance |
| rs1938531475 | 12:48,367,195 | A/T | — | uncertain significance |
| rs1565664095 | 12:48,367,201 | A/G | — | conflicting classifications of pathogenicity |
| rs41272771 | 12:48,367,205 | C/T | — | benign |
| rs376442872 | 12:48,367,206 | G/A | — | conflicting classifications of pathogenicity |
| rs2136501711 | 12:48,367,210 | C/T | — | uncertain significance |
| rs772969125 | 12:48,367,216 | C/T | — | likely benign |
| rs1414146646 | 12:48,367,218 | A/G | — | conflicting classifications of pathogenicity |
| rs1400762548 | 12:48,367,222 | C/T | — | conflicting classifications of pathogenicity |
| rs746611653 | 12:48,367,223 | G/A | — | likely benign |
| rs2136501824 | 12:48,367,225 | A/G | — | uncertain significance |
| rs369696920 | 12:48,367,232 | C/T | — | likely benign |
| rs540750398 | 12:48,367,234 | C/T | — | conflicting classifications of pathogenicity |
| rs775923357 | 12:48,367,235 | G/A | — | likely benign |
| rs773418634 | 12:48,367,239 | C/T | — | uncertain significance |
| rs763352763 | 12:48,367,240 | C/G | — | conflicting classifications of pathogenicity |
| rs1938534876 | 12:48,367,245 | A/G | — | uncertain significance |
| rs767724615 | 12:48,367,246 | T/C | — | benign |
| rs750477616 | 12:48,367,247 | G/A | — | likely benign |
| rs2136502090 | 12:48,367,249 | C/A | — | pathogenic |
| rs2540091281 | 12:48,367,254 | G/T | — | uncertain significance |
| rs1938536335 | 12:48,367,257 | G/T | — | uncertain significance |
| rs1330705255 | 12:48,367,262 | G/A | — | likely benign |
| rs1224083058 | 12:48,367,265 | A/C | — | conflicting classifications of pathogenicity |
| rs748077700 | 12:48,367,266 | A/G | — | uncertain significance |
| rs1490116358 | 12:48,367,267 | T/C | — | uncertain significance |
| rs2540091350 | 12:48,367,268 | G/C | — | uncertain significance |
| rs145524810 | 12:48,367,274 | G/A | — | likely benign |
| rs2540091378 | 12:48,367,276 | G/A | — | uncertain significance |
| rs777416478 | 12:48,367,278 | C/T | — | conflicting classifications of pathogenicity |
| rs148838496 | 12:48,367,279 | G/A | — | conflicting classifications of pathogenicity |
| rs2540091418 | 12:48,367,284 | G/C | — | uncertain significance |
| rs1555164217 | 12:48,367,291 | G/A | — | likely pathogenic |
| rs770494878 | 12:48,367,296 | C/T | — | conflicting classifications of pathogenicity |
| rs776306214 | 12:48,367,297 | G/A | — | benign |
| rs2136502370 | 12:48,367,298 | G/A | — | uncertain significance |
| rs745401764 | 12:48,367,299 | T/C | — | uncertain significance |
| rs769267684 | 12:48,367,302 | T/C | — | uncertain significance |
| rs776015253 | 12:48,367,303 | C/T | — | likely benign |
| rs137948104 | 12:48,367,304 | G/A | — | conflicting classifications of pathogenicity |
| rs113238468 | 12:48,367,306 | T/C | — | conflicting classifications of pathogenicity |
| rs200214562 | 12:48,367,310 | A/G | — | likely benign |
| rs1481212897 | 12:48,367,311 | G/C | — | conflicting classifications of pathogenicity |
| rs1443585376 | 12:48,367,314 | T/C | — | likely benign |
| rs1938540779 | 12:48,367,326 | C/T | — | uncertain significance |
| rs78690642 | 12:48,367,327 | C/T | — | likely benign |
| rs201223454 | 12:48,367,328 | G/A | — | conflicting classifications of pathogenicity |
| rs750624540 | 12:48,367,329 | G/T | — | uncertain significance |
| rs766537396 | 12:48,367,334 | T/A | — | uncertain significance |
| rs2136502727 | 12:48,367,336 | T/C | — | uncertain significance |
| rs2136502748 | 12:48,367,340 | G/C | — | likely benign |
| rs2136502761 | 12:48,367,342 | G/A | — | likely benign |
| rs570227994 | 12:48,367,353 | G/A | — | likely benign |
| rs61048429 | 12:48,367,427 | G/A | — | benign |
| rs116379863 | 12:48,367,557 | C/G | — | likely benign |
| rs1635560 | 12:48,367,829 | G/A | — | benign |
| rs1244069833 | 12:48,367,853 | C/T | — | likely benign |
| rs1370882684 | 12:48,367,857 | G/A | — | likely benign |
| rs1938569997 | 12:48,367,859 | C/A | — | likely benign |
| rs1339862998 | 12:48,367,862 | C/T | — | likely benign |
| rs1938570357 | 12:48,367,863 | C/G | — | uncertain significance |
| rs373141723 | 12:48,367,864 | C/T | — | likely benign |
| rs2136504658 | 12:48,367,870 | A/C | — | pathogenic |
| rs2136504667 | 12:48,367,871 | C/A | — | pathogenic |
| rs996256377 | 12:48,367,872 | C/T | — | uncertain significance |
| rs121912886 | 12:48,367,873 | G/A | missense variant | pathogenic |
| rs1938571131 | 12:48,367,874 | T/C | — | uncertain significance |
| rs121912890 | 12:48,367,875 | G/T | stop gained | pathogenic |
| rs794727757 | 12:48,367,883 | C/T | — | uncertain significance |
| rs1293471595 | 12:48,367,886 | T/A | — | pathogenic |
| rs2540094274 | 12:48,367,890 | G/A | — | likely benign |
| rs2136504848 | 12:48,367,896 | G/T | — | pathogenic |
| rs1938571833 | 12:48,367,898 | A/G | — | uncertain significance |
| rs554488169 | 12:48,367,899 | C/T | — | conflicting classifications of pathogenicity |
| rs147559634 | 12:48,367,900 | G/A | — | conflicting classifications of pathogenicity |
| rs1309298067 | 12:48,367,908 | G/C | — | uncertain significance |
| rs41272767 | 12:48,367,914 | G/A | — | conflicting classifications of pathogenicity |
| rs989110731 | 12:48,367,915 | C/G | — | uncertain significance |
| rs1938572773 | 12:48,367,917 | C/T | — | likely benign |
| rs2540094433 | 12:48,367,921 | G/C | — | uncertain significance |
| rs1323562951 | 12:48,367,923 | C/T | — | likely benign |
| rs745349011 | 12:48,367,924 | C/T | — | conflicting classifications of pathogenicity |
| rs754466377 | 12:48,367,925 | G/A | — | conflicting classifications of pathogenicity |
| rs1471246746 | 12:48,367,930 | T/G | — | uncertain significance |
| rs1308668773 | 12:48,367,933 | A/G | — | benign |
| rs371226850 | 12:48,367,934 | C/T | — | conflicting classifications of pathogenicity |
Showing 100 of 2,153 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.