IL1R1
interleukin 1 receptor type 1
Summary
This gene encodes a cytokine receptor that belongs to the interleukin-1 receptor family. The encoded protein is a receptor for interleukin-1 alpha, interleukin-1 beta, and interleukin-1 receptor antagonist. It is an important mediator involved in many cytokine-induced immune and inflammatory responses. This gene is located in a cluster of related cytokine receptor genes on chromosome 2q12. [provided by RefSeq, Dec 2013]
Known Variants53 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142564986 | 2:102,701,913 | G/A | regulatory region variant | — |
| rs11689277 | 2:102,704,251 | G/A | intron variant | — |
| rs530689742 | 2:102,713,333 | A/T | — | — |
| rs28432036 | 2:102,715,649 | G/A | — | — |
| rs10490571 | 2:102,717,337 | C/T | regulatory region variant | — |
| rs149139438 | 2:102,717,816 | G/A | intron variant | — |
| rs12712127 | 2:102,726,661 | A/G | intron variant | — |
| rs146938811 | 2:102,729,226 | G/A | intron variant | — |
| rs75554982 | 2:102,731,189 | A/G | regulatory region variant | — |
| rs138301303 | 2:102,744,226 | T/C | regulatory region variant | — |
| rs193207013 | 2:102,757,395 | G/A | upstream gene variant | — |
| rs956730 | 2:102,758,116 | G/T | — | — |
| rs2234650 | 2:102,758,327 | C/G | — | — |
| rs1800919 | 2:102,759,293 | A/C | regulatory region variant | — |
| rs1558641 | 2:102,765,865 | G/A | intron variant | — |
| rs3917225 | 2:102,769,302 | A/G | intron variant | — |
| rs2192752 | 2:102,769,373 | G/T | intron variant | — |
| rs76194130 | 2:102,769,516 | T/C | intron variant | — |
| rs949963 | 2:102,769,786 | C/T | intron variant | — |
| rs3917238 | 2:102,773,083 | C/T | intron variant | — |
| rs2287047 | 2:102,774,054 | G/T | — | — |
| rs2528448973 | 2:102,774,242 | G/A | — | uncertain significance |
| rs13019803 | 2:102,776,202 | C/T | intron variant | association |
| rs3917254 | 2:102,776,518 | G/A | intron variant | association |
| rs3917267 | 2:102,778,819 | G/T | — | — |
| rs3917270 | 2:102,779,392 | A/T | — | — |
| rs182761019 | 2:102,779,978 | T/G | intron variant | — |
| rs113620360 | 2:102,781,253 | A/C | — | uncertain significance |
| rs774553627 | 2:102,781,330 | G/A | — | uncertain significance |
| rs202061965 | 2:102,781,356 | A/G | — | uncertain significance |
| rs2528521189 | 2:102,781,669 | A/G | — | pathogenic |
| rs2528534214 | 2:102,782,709 | C/T | — | uncertain significance |
| rs2160227 | 2:102,783,355 | G/T | intron variant | — |
| rs13020778 | 2:102,784,574 | T/C | downstream gene variant | — |
| rs3917296 | 2:102,784,833 | G/A | — | association |
| rs147536577 | 2:102,785,064 | A/G | — | uncertain significance |
| rs867765901 | 2:102,785,076 | G/A | — | uncertain significance |
| rs374920040 | 2:102,788,301 | G/A | — | likely benign |
| rs115796194 | 2:102,788,337 | A/G | — | benign |
| rs142722712 | 2:102,789,166 | A/G | — | uncertain significance |
| rs201495812 | 2:102,789,265 | A/G | — | uncertain significance |
| rs1310627451 | 2:102,791,071 | T/C | — | uncertain significance |
| rs767020146 | 2:102,791,089 | T/C | — | uncertain significance |
| rs113665542 | 2:102,791,960 | C/T | — | likely benign |
| rs2528652814 | 2:102,792,009 | T/A | — | likely benign |
| rs145900966 | 2:102,792,755 | A/G | intron variant | — |
| rs148364799 | 2:102,792,951 | A/C | — | uncertain significance |
| rs201410299 | 2:102,793,049 | C/T | — | uncertain significance |
| rs779843024 | 2:102,793,050 | G/T | — | uncertain significance |
| rs535779270 | 2:102,793,134 | G/A | — | uncertain significance |
| rs749524190 | 2:102,793,137 | G/A | — | likely benign |
| rs774326480 | 2:102,793,148 | T/C | — | uncertain significance |
| rs2110726 | 2:102,794,282 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.