ADRB1
adrenoceptor beta 1
Pharmacogene
Summary
The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Beta-1 adrenoceptors are predominately located in the heart. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Sep 2019]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs545019520 | 10:115,803,905 | T/C | — | benign |
| rs2494547025 | 10:115,803,961 | G/C | — | uncertain significance |
| rs2119528070 | 10:115,803,962 | A/C | — | uncertain significance |
| rs1158892122 | 10:115,803,974 | C/G | — | uncertain significance |
| rs757591980 | 10:115,804,013 | C/G | — | uncertain significance |
| rs1801252 | 10:115,804,036 | A/G | missense variant | association |
| rs763615545 | 10:115,804,064 | C/T | — | uncertain significance |
| rs116403933 | 10:115,804,098 | G/A | — | benign |
| rs140442073 | 10:115,804,119 | T/C | — | benign |
| rs7921133 | 10:115,804,206 | G/T | — | benign |
| rs2494547690 | 10:115,804,255 | G/A | — | uncertain significance |
| rs1434322985 | 10:115,804,360 | T/C | — | uncertain significance |
| rs61729407 | 10:115,804,431 | C/T | — | benign |
| rs776439595 | 10:115,804,451 | C/T | — | pathogenic |
| rs2494548276 | 10:115,804,570 | G/T | — | uncertain significance |
| rs375128225 | 10:115,804,628 | G/A | — | uncertain significance |
| rs199698054 | 10:115,804,699 | G/A | — | benign |
| rs768923241 | 10:115,804,700 | C/A | — | uncertain significance |
| rs370424397 | 10:115,804,714 | C/T | — | uncertain significance |
| rs572172231 | 10:115,804,753 | G/A | — | uncertain significance |
| rs1271293827 | 10:115,804,805 | G/C | — | uncertain significance |
| rs2494549130 | 10:115,804,822 | C/A | — | uncertain significance |
| rs769199397 | 10:115,804,829 | G/C | — | uncertain significance |
| rs748944814 | 10:115,804,933 | G/T | — | uncertain significance |
| rs141633952 | 10:115,804,956 | C/A | — | benign |
| rs150497212 | 10:115,805,036 | A/G | — | benign |
| rs1801253 | 10:115,805,056 | G/C | missense | association |
| rs17875445 | 10:115,805,057 | G/T | — | benign |
| rs1372825930 | 10:115,805,089 | C/T | — | uncertain significance |
| rs545652970 | 10:115,805,130 | C/G | — | likely benign |
| rs2494549891 | 10:115,805,131 | T/A | — | uncertain significance |
| rs371023749 | 10:115,805,134 | C/G | — | uncertain significance |
| rs542444851 | 10:115,805,208 | G/A | — | likely benign |
| rs913195347 | 10:115,805,230 | C/G | — | uncertain significance |
| rs1049589908 | 10:115,805,273 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.