ADIPOQ
adiponectin, C1Q and collagen domain containing
Summary
This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
Known Variants48 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs16861194 | 3:186,559,425 | A/G | upstream gene variant | — |
| rs17300539 | 3:186,559,460 | G/A | upstream gene variant | — |
| rs266729 | 3:186,559,474 | C/T | — | — |
| rs876661321 | 3:186,559,503 | G/T | — | risk factor |
| rs182052 | 3:186,560,782 | G/A | intron variant | — |
| rs141134215 | 3:186,561,201 | C/A | intron variant | — |
| rs16861205 | 3:186,561,634 | G/A | intron variant | — |
| rs74577862 | 3:186,561,692 | G/A | intron variant | — |
| rs16861209 | 3:186,563,114 | C/G | — | — |
| rs822391 | 3:186,563,803 | C/A | — | — |
| rs822393 | 3:186,566,326 | C/A | — | — |
| rs822394 | 3:186,566,728 | A/T | — | — |
| rs822395 | 3:186,566,807 | C/G | — | — |
| rs822396 | 3:186,566,877 | G/T | — | — |
| rs12495941 | 3:186,568,180 | G/A | — | — |
| rs7649121 | 3:186,568,785 | A/T | downstream gene variant | — |
| rs7627128 | 3:186,568,799 | C/A | downstream gene variant | — |
| rs9882205 | 3:186,570,398 | G/A | coding sequence variant | — |
| rs17366568 | 3:186,570,453 | G/A | coding sequence variant | — |
| rs17846866 | 3:186,570,746 | T/G | coding sequence variant | — |
| rs17366653 | 3:186,570,816 | T/C | splice region variant | — |
| rs2241766 | 3:186,570,892 | T/G | synonymous variant | benign |
| rs144448520 | 3:186,570,960 | G/A | — | benign |
| rs200573126 | 3:186,570,980 | G/C | — | uncertain significance |
| rs147185738 | 3:186,571,038 | A/G | — | uncertain significance |
| rs1501299 | 3:186,571,123 | G/C | — | — |
| rs2241767 | 3:186,571,196 | A/G | intron variant | — |
| rs3774261 | 3:186,571,559 | A/G | splice region variant | — |
| rs3774262 | 3:186,571,814 | G/C | — | — |
| rs76533408 | 3:186,572,007 | C/T | — | likely benign |
| rs779058354 | 3:186,572,015 | C/T | — | uncertain significance |
| rs62625753 | 3:186,572,026 | G/A | — | likely benign |
| rs201912491 | 3:186,572,031 | C/A | — | likely benign |
| rs770133299 | 3:186,572,042 | C/T | — | uncertain significance |
| rs2474068763 | 3:186,572,046 | A/T | — | likely benign |
| rs1372582141 | 3:186,572,071 | G/A | — | uncertain significance |
| rs17366743 | 3:186,572,089 | T/C | missense variant | benign |
| rs121917815 | 3:186,572,092 | C/T | missense variant | pathogenic |
| rs746715860 | 3:186,572,105 | G/A | — | uncertain significance |
| rs144526209 | 3:186,572,353 | G/A | missense variant | — |
| rs183590709 | 3:186,572,416 | G/T | — | uncertain significance |
| rs760817936 | 3:186,572,420 | G/A | — | likely benign |
| rs529727905 | 3:186,572,489 | A/T | — | uncertain significance |
| rs6773957 | 3:186,573,705 | A/G | coding sequence variant | — |
| rs1063537 | 3:186,574,075 | C/T | upstream gene variant | — |
| rs2082940 | 3:186,574,164 | T/G | — | — |
| rs1063538 | 3:186,574,183 | T/C | upstream gene variant | — |
| rs1063539 | 3:186,575,392 | G/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.