CDKN2B-AS1
CDKN2B and CDKN2A antisense cis and trans regulatory RNA 1
Summary
This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2811712 | 9:21,998,035 | G/C | — | — |
| rs3218009 | 9:21,998,757 | C/G | downstream gene variant | — |
| rs3218005 | 9:22,000,247 | T/C | downstream gene variant | — |
| rs79356439 | 9:22,011,360 | A/G | upstream gene variant | — |
| rs573687 | 9:22,011,642 | G/A | upstream gene variant | — |
| rs7044859 | 9:22,018,781 | T/A | intron variant | — |
| rs523096 | 9:22,019,129 | A/G | intron variant | — |
| rs518394 | 9:22,019,673 | G/C | intron variant | — |
| rs496892 | 9:22,024,351 | C/G | — | — |
| rs615552 | 9:22,026,077 | T/C | intron variant | — |
| rs613312 | 9:22,026,594 | G/T | — | — |
| rs1591136 | 9:22,026,834 | G/T | — | — |
| rs7049105 | 9:22,028,801 | A/G | intron variant | — |
| rs564398 | 9:22,029,547 | T/C | coding sequence variant | — |
| rs4977753 | 9:22,030,027 | C/A | — | — |
| rs662463 | 9:22,030,438 | A/C | — | — |
| rs7865618 | 9:22,031,005 | G/A | intron variant | — |
| rs10115049 | 9:22,032,119 | A/G | intron variant | — |
| rs634537 | 9:22,032,152 | T/G | regulatory region variant | — |
| rs2157719 | 9:22,033,366 | C/T | regulatory region variant | — |
| rs2151280 | 9:22,034,719 | G/C | — | — |
| rs1360590 | 9:22,041,443 | T/G | — | — |
| rs1412829 | 9:22,043,926 | A/G | intron variant | — |
| rs7027950 | 9:22,048,391 | C/T | intron variant | — |
| rs10738605 | 9:22,049,130 | C/A | coding sequence variant | — |
| rs10811645 | 9:22,049,656 | G/A | regulatory region variant | — |
| rs944801 | 9:22,051,670 | G/A | — | — |
| rs6475604 | 9:22,052,734 | T/A | — | — |
| rs10965219 | 9:22,053,687 | A/T | — | — |
| rs17756311 | 9:22,053,895 | G/A | intron variant | — |
| rs2383204 | 9:22,055,048 | A/T | — | — |
| rs7039467 | 9:22,056,213 | A/T | — | — |
| rs7853090 | 9:22,056,295 | T/C | coding sequence variant | — |
| rs10120688 | 9:22,056,499 | G/C | — | — |
| rs2184061 | 9:22,061,562 | C/T | — | — |
| rs1537378 | 9:22,061,614 | A/G | intron variant | — |
| rs1011970 | 9:22,062,134 | G/T | intron variant | — |
| rs10811647 | 9:22,065,002 | C/T | — | — |
| rs1333039 | 9:22,065,657 | G/T | — | — |
| rs4977756 | 9:22,068,652 | G/T | — | — |
| rs16905599 | 9:22,069,144 | G/A | intron variant | — |
| rs10757269 | 9:22,072,264 | A/T | — | — |
| rs9632884 | 9:22,072,301 | G/C | intron variant | protective |
| rs10811652 | 9:22,077,085 | A/C | intron variant | — |
| rs10116277 | 9:22,081,397 | G/T | intron variant | — |
| rs6475606 | 9:22,081,850 | C/G | — | — |
| rs1333040 | 9:22,083,404 | C/G | — | — |
| rs1537370 | 9:22,084,310 | C/T | intron variant | — |
| rs7857345 | 9:22,087,473 | T/G | — | — |
| rs10757272 | 9:22,088,260 | C/T | regulatory region variant | — |
| rs10757273 | 9:22,090,301 | C/A | intron variant | — |
| rs10965230 | 9:22,090,416 | C/T | intron variant | — |
| rs9644860 | 9:22,090,603 | C/A | — | — |
| rs9644861 | 9:22,090,935 | C/T | — | — |
| rs9644862 | 9:22,090,936 | T/A | — | — |
| rs7866503 | 9:22,091,924 | G/T | intron variant | — |
| rs10811654 | 9:22,092,924 | A/C | — | — |
| rs4007642 | 9:22,093,299 | A/C | — | — |
| rs4977757 | 9:22,094,330 | A/G | intron variant | — |
| rs10738608 | 9:22,094,796 | A/G | — | — |
| rs10757274 | 9:22,096,055 | A/G | intergenic variant | risk factor |
| rs4977574 | 9:22,098,574 | A/G | intron variant | risk factor |
| rs2891168 | 9:22,098,619 | A/G | intron variant | — |
| rs1537371 | 9:22,099,568 | C/A | intron variant | — |
| rs1556516 | 9:22,100,176 | G/C | intron variant | — |
| rs1537373 | 9:22,103,341 | T/G | regulatory region variant | benign |
| rs1333042 | 9:22,103,813 | A/G | regulatory region variant | protective |
| rs7859362 | 9:22,105,927 | T/C | intron variant | — |
| rs6475609 | 9:22,106,271 | A/T | — | — |
| rs188610000 | 9:22,109,523 | C/A | intron variant | — |
| rs1412834 | 9:22,110,131 | T/G | — | — |
| rs7341786 | 9:22,112,241 | A/G | — | — |
| rs10733376 | 9:22,114,469 | G/C | intron variant | — |
| rs2383206 | 9:22,115,026 | A/G | regulatory region variant | — |
| rs10965235 | 9:22,115,105 | C/A | regulatory region variant | — |
| rs944796 | 9:22,115,285 | C/G | regulatory region variant | — |
| rs944797 | 9:22,115,286 | T/G | — | — |
| rs1004638 | 9:22,115,589 | A/T | intron variant | — |
| rs2383207 | 9:22,115,959 | A/G | intron variant | — |
| rs1537374 | 9:22,116,046 | A/G | intron variant | — |
| rs1537375 | 9:22,116,071 | T/G | — | — |
| rs1333045 | 9:22,119,195 | T/G | — | — |
| rs10757278 | 9:22,124,477 | A/G | intron variant | — |
| rs1333049 | 9:22,125,503 | G/C | intergenic variant | risk factor |
Gene information from NCBI Gene. Variant classifications from ClinVar.