P2RY12
purinergic receptor P2Y12
Summary
The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor is involved in platelet aggregation, and is a potential target for the treatment of thromboembolisms and other clotting disorders. Mutations in this gene are implicated in bleeding disorder, platelet type 8 (BDPLT8). Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]
Known Variants93 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs745898005 | 3:151,055,630 | T/G | — | uncertain significance |
| rs16846673 | 3:151,055,645 | T/C | — | benign |
| rs2473262486 | 3:151,055,646 | C/T | — | uncertain significance |
| rs748857978 | 3:151,055,652 | T/C | — | uncertain significance |
| rs373677050 | 3:151,055,656 | A/G | — | likely benign |
| rs181775983 | 3:151,055,666 | G/A | — | uncertain significance |
| rs754141331 | 3:151,055,684 | T/C | — | uncertain significance |
| rs929420354 | 3:151,055,713 | A/T | — | uncertain significance |
| rs1448402312 | 3:151,055,716 | T/G | — | uncertain significance |
| rs780595507 | 3:151,055,741 | T/C | — | uncertain significance |
| rs372954515 | 3:151,055,786 | G/A | — | uncertain significance |
| rs761528306 | 3:151,055,798 | A/G | — | uncertain significance |
| rs1751253057 | 3:151,055,799 | C/T | — | uncertain significance |
| rs758537011 | 3:151,055,826 | A/G | — | uncertain significance |
| rs766333657 | 3:151,055,829 | C/T | — | uncertain significance |
| rs1751262323 | 3:151,055,838 | C/T | — | uncertain significance |
| rs755459581 | 3:151,055,840 | C/G | — | pathogenic |
| rs121917886 | 3:151,055,841 | G/A | missense variant | pathogenic |
| rs202099742 | 3:151,055,862 | G/T | — | uncertain significance |
| rs121917885 | 3:151,055,867 | C/T | missense variant | pathogenic |
| rs186893035 | 3:151,055,896 | A/G | — | likely benign |
| rs2473269970 | 3:151,055,904 | C/T | — | uncertain significance |
| rs766571463 | 3:151,055,929 | G/A | — | likely benign |
| rs750038818 | 3:151,055,932 | C/T | — | likely benign |
| rs767970539 | 3:151,055,961 | C/A | — | uncertain significance |
| rs533622869 | 3:151,055,962 | C/T | — | likely benign |
| rs112155006 | 3:151,055,965 | C/T | — | likely benign |
| rs148966366 | 3:151,055,966 | G/A | — | uncertain significance |
| rs2149931111 | 3:151,055,979 | A/G | — | uncertain significance |
| rs911824376 | 3:151,055,981 | C/T | — | uncertain significance |
| rs2473272281 | 3:151,055,987 | A/G | — | uncertain significance |
| rs746513347 | 3:151,055,994 | T/C | — | uncertain significance |
| rs768198990 | 3:151,056,000 | T/A | — | uncertain significance |
| rs774623268 | 3:151,056,028 | G/T | — | uncertain significance |
| rs943960274 | 3:151,056,034 | A/C | — | uncertain significance |
| rs976052391 | 3:151,056,063 | T/A | — | uncertain significance |
| rs923308300 | 3:151,056,073 | A/T | — | likely pathogenic |
| rs16863320 | 3:151,056,088 | G/A | — | benign |
| rs751218750 | 3:151,056,091 | C/T | — | benign |
| rs1577367042 | 3:151,056,110 | C/T | — | uncertain significance |
| rs1577367082 | 3:151,056,114 | T/C | — | likely pathogenic |
| rs747604391 | 3:151,056,121 | A/G | — | likely benign |
| rs368508157 | 3:151,056,133 | C/T | — | likely benign |
| rs1191798844 | 3:151,056,165 | A/G | — | likely benign |
| rs2473277541 | 3:151,056,169 | G/C | — | likely benign |
| rs62283053 | 3:151,056,174 | A/G | — | likely benign |
| rs1159031994 | 3:151,056,186 | C/G | — | uncertain significance |
| rs571520048 | 3:151,056,219 | A/G | — | likely benign |
| rs202099042 | 3:151,056,235 | G/A | — | likely benign |
| rs116818045 | 3:151,056,254 | G/A | — | likely benign |
| rs778790805 | 3:151,056,269 | C/T | — | conflicting classifications of pathogenicity |
| rs557043245 | 3:151,056,270 | G/A | — | conflicting classifications of pathogenicity |
| rs370954402 | 3:151,056,273 | C/T | — | uncertain significance |
| rs573525185 | 3:151,056,274 | G/A | — | likely benign |
| rs375376556 | 3:151,056,282 | T/A | — | uncertain significance |
| rs1374555502 | 3:151,056,290 | A/G | — | uncertain significance |
| rs947116652 | 3:151,056,330 | C/T | — | uncertain significance |
| rs778319065 | 3:151,056,331 | G/A | — | likely benign |
| rs2473282149 | 3:151,056,343 | A/G | — | likely benign |
| rs755664732 | 3:151,056,350 | A/G | — | uncertain significance |
| rs540492659 | 3:151,056,377 | T/C | — | uncertain significance |
| rs1252629428 | 3:151,056,457 | A/G | — | likely benign |
| rs770337997 | 3:151,056,473 | C/T | — | uncertain significance |
| rs192284069 | 3:151,056,474 | G/A | — | uncertain significance |
| rs2473285266 | 3:151,056,493 | C/A | — | uncertain significance |
| rs368849296 | 3:151,056,496 | C/T | — | likely benign |
| rs1439180705 | 3:151,056,516 | G/A | — | uncertain significance |
| rs376700750 | 3:151,056,520 | A/G | — | likely benign |
| rs1392841396 | 3:151,056,521 | A/G | — | uncertain significance |
| rs753397362 | 3:151,056,529 | C/T | — | likely benign |
| rs750320737 | 3:151,056,549 | G/C | — | uncertain significance |
| rs1213491299 | 3:151,056,588 | G/C | — | uncertain significance |
| rs6809699 | 3:151,056,598 | A/C | synonymous variant | benign |
| rs369115073 | 3:151,056,604 | C/T | — | likely benign |
| rs771379536 | 3:151,056,605 | G/A | — | likely benign |
| rs6785930 | 3:151,056,616 | G/A | synonymous variant | benign |
| rs199959126 | 3:151,056,621 | C/T | — | uncertain significance |
| rs41267893 | 3:151,056,622 | G/A | — | likely benign |
| rs201192490 | 3:151,056,625 | G/A | — | likely benign |
| rs764619024 | 3:151,056,632 | A/G | — | uncertain significance |
| rs2046934 | 3:151,057,642 | G/C | — | — |
| rs10935838 | 3:151,058,247 | A/G | intron variant | — |
| rs7615865 | 3:151,073,033 | T/C | splice region variant | benign |
| rs3732760 | 3:151,074,941 | A/T | — | — |
| rs1388623 | 3:151,084,330 | T/G | intron variant | — |
| rs1388622 | 3:151,084,412 | T/G | — | — |
| rs7634096 | 3:151,087,637 | C/G | — | — |
| rs7637803 | 3:151,089,226 | C/G | — | — |
| rs3732765 | 3:151,090,424 | G/A | missense variant | benign |
| rs9859538 | 3:151,090,963 | G/A | intron variant | — |
| rs6787801 | 3:151,099,741 | A/C | — | — |
| rs10935841 | 3:151,101,691 | C/T | intron variant | benign |
| rs1491974 | 3:151,102,452 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.