CILP
cartilage intermediate layer protein
Summary
Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010]
Known Variants111 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs938952 | 15:65,489,128 | C/T | missense variant | benign |
| rs747871021 | 15:65,489,173 | G/T | — | uncertain significance |
| rs773061589 | 15:65,489,248 | G/A | — | uncertain significance |
| rs1002727590 | 15:65,489,257 | G/C | — | uncertain significance |
| rs767099048 | 15:65,489,283 | G/C | — | uncertain significance |
| rs779758505 | 15:65,489,286 | A/G | — | uncertain significance |
| rs148504644 | 15:65,489,390 | A/G | — | likely benign |
| rs546229537 | 15:65,489,400 | C/T | — | uncertain significance |
| rs35385195 | 15:65,489,434 | G/A | — | benign |
| rs755314183 | 15:65,489,455 | C/T | — | uncertain significance |
| rs144076381 | 15:65,489,523 | C/T | — | likely benign |
| rs746992209 | 15:65,489,524 | G/A | — | uncertain significance |
| rs146484784 | 15:65,489,569 | G/A | — | uncertain significance |
| rs370825354 | 15:65,489,616 | G/T | — | uncertain significance |
| rs143163077 | 15:65,489,643 | C/T | — | uncertain significance |
| rs750503262 | 15:65,489,644 | G/A | — | uncertain significance |
| rs2088381277 | 15:65,489,683 | C/T | — | uncertain significance |
| rs2679117 | 15:65,489,688 | T/C | missense variant | benign |
| rs375320311 | 15:65,489,705 | C/T | — | uncertain significance |
| rs777389416 | 15:65,489,817 | C/T | — | uncertain significance |
| rs771555017 | 15:65,489,865 | T/C | — | uncertain significance |
| rs34908405 | 15:65,489,880 | T/G | missense variant | — |
| rs141790957 | 15:65,489,926 | G/A | — | uncertain significance |
| rs2541897870 | 15:65,490,031 | C/T | — | uncertain significance |
| rs142030889 | 15:65,490,095 | G/T | — | uncertain significance |
| rs2541898055 | 15:65,490,122 | T/A | — | uncertain significance |
| rs750899939 | 15:65,490,154 | C/T | — | uncertain significance |
| rs369616199 | 15:65,490,213 | T/C | — | uncertain significance |
| rs756391101 | 15:65,490,281 | C/G | — | uncertain significance |
| rs775403820 | 15:65,490,373 | G/A | — | uncertain significance |
| rs769347962 | 15:65,490,430 | C/G | — | uncertain significance |
| rs1428415353 | 15:65,490,477 | A/C | — | uncertain significance |
| rs377170855 | 15:65,490,660 | C/T | — | uncertain significance |
| rs142003410 | 15:65,490,661 | G/A | — | uncertain significance |
| rs36086843 | 15:65,490,673 | T/C | — | uncertain significance |
| rs147805917 | 15:65,490,682 | C/T | — | uncertain significance |
| rs199911017 | 15:65,490,683 | G/A | — | likely benign |
| rs374037707 | 15:65,490,700 | G/C | — | uncertain significance |
| rs143772526 | 15:65,490,835 | G/A | — | uncertain significance |
| rs376138832 | 15:65,490,859 | G/T | — | uncertain significance |
| rs2679118 | 15:65,490,901 | T/A | stop gained | — |
| rs141100101 | 15:65,490,907 | G/A | — | uncertain significance |
| rs766316509 | 15:65,490,915 | A/G | — | uncertain significance |
| rs2088409935 | 15:65,490,924 | T/G | — | uncertain significance |
| rs2541900315 | 15:65,490,933 | A/C | — | uncertain significance |
| rs779404608 | 15:65,490,992 | C/G | — | uncertain significance |
| rs1016112110 | 15:65,491,008 | A/G | — | uncertain significance |
| rs754555366 | 15:65,491,051 | T/C | — | uncertain significance |
| rs376689702 | 15:65,491,078 | G/A | — | uncertain significance |
| rs146324137 | 15:65,491,099 | G/T | — | uncertain significance |
| rs370038983 | 15:65,491,108 | G/A | — | uncertain significance |
| rs201168275 | 15:65,491,146 | C/T | — | uncertain significance |
| rs144548738 | 15:65,491,147 | G/A | — | uncertain significance |
| rs142684447 | 15:65,491,166 | C/T | — | likely benign |
| rs147228485 | 15:65,491,167 | G/A | — | benign |
| rs527396607 | 15:65,491,174 | G/A | — | uncertain significance |
| rs867716353 | 15:65,491,212 | G/C | — | uncertain significance |
| rs756228615 | 15:65,491,229 | G/C | — | uncertain significance |
| rs374499452 | 15:65,491,231 | T/C | — | uncertain significance |
| rs35714337 | 15:65,491,281 | C/T | — | benign |
| rs201015610 | 15:65,491,282 | G/A | — | uncertain significance |
| rs142998109 | 15:65,491,333 | G/A | — | benign |
| rs145347509 | 15:65,491,340 | G/T | — | uncertain significance |
| rs1159184715 | 15:65,491,379 | A/T | — | uncertain significance |
| rs145150482 | 15:65,491,390 | G/A | — | uncertain significance |
| rs140474988 | 15:65,491,429 | C/T | — | uncertain significance |
| rs2073711 | 15:65,494,212 | A/G | missense variant | risk factor |
| rs371735478 | 15:65,494,260 | T/C | — | uncertain significance |
| rs772772706 | 15:65,494,315 | G/C | — | uncertain significance |
| rs775887125 | 15:65,494,321 | T/G | — | uncertain significance |
| rs762194365 | 15:65,494,353 | G/A | — | uncertain significance |
| rs758378541 | 15:65,494,362 | T/C | — | uncertain significance |
| rs769257680 | 15:65,495,752 | C/T | — | uncertain significance |
| rs35112728 | 15:65,495,769 | C/T | — | uncertain significance |
| rs763019001 | 15:65,495,770 | G/A | — | uncertain significance |
| rs2585035 | 15:65,496,475 | T/G | intron variant | — |
| rs148415615 | 15:65,496,723 | A/G | — | uncertain significance |
| rs569986336 | 15:65,496,732 | G/T | — | uncertain significance |
| rs1301495780 | 15:65,496,738 | G/A | — | uncertain significance |
| rs2088494492 | 15:65,496,753 | T/C | — | uncertain significance |
| rs142554152 | 15:65,496,776 | G/A | — | uncertain significance |
| rs1450692001 | 15:65,496,782 | T/C | — | uncertain significance |
| rs145919613 | 15:65,496,831 | G/A | — | uncertain significance |
| rs751578317 | 15:65,496,896 | C/A | — | uncertain significance |
| rs114627975 | 15:65,496,909 | T/G | — | uncertain significance |
| rs146295641 | 15:65,497,662 | G/A | — | likely benign |
| rs2088506206 | 15:65,497,684 | A/G | — | uncertain significance |
| rs369581577 | 15:65,497,711 | C/T | — | uncertain significance |
| rs764337893 | 15:65,497,724 | C/T | — | uncertain significance |
| rs765576689 | 15:65,497,780 | C/T | — | likely benign |
| rs1320795825 | 15:65,497,790 | C/T | — | uncertain significance |
| rs371987972 | 15:65,497,795 | C/T | — | uncertain significance |
| rs145973133 | 15:65,497,801 | G/A | — | uncertain significance |
| rs376488192 | 15:65,499,137 | C/T | — | uncertain significance |
| rs147442122 | 15:65,499,141 | C/G | — | uncertain significance |
| rs139011656 | 15:65,499,170 | C/T | — | uncertain significance |
| rs759339509 | 15:65,499,200 | T/G | — | uncertain significance |
| rs536742270 | 15:65,499,204 | G/A | — | uncertain significance |
| rs149463144 | 15:65,499,242 | G/C | — | uncertain significance |
| rs376150356 | 15:65,499,281 | C/T | — | uncertain significance |
Showing 100 of 111 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.