ABCA9
ATP binding cassette subfamily A member 9
Summary
This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]
Known Variants105 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1472874327 | 17:66,972,086 | C/A | — | uncertain significance |
| rs959051547 | 17:66,972,105 | T/C | — | uncertain significance |
| rs754389074 | 17:66,972,322 | C/T | — | likely benign |
| rs78196338 | 17:66,973,049 | G/A | intron variant | — |
| rs2069094047 | 17:66,978,723 | G/T | — | uncertain significance |
| rs372952180 | 17:66,978,738 | C/T | — | uncertain significance |
| rs776336343 | 17:66,978,758 | C/T | — | likely benign |
| rs370954353 | 17:66,979,902 | G/C | — | uncertain significance |
| rs375455257 | 17:66,979,906 | C/A | — | uncertain significance |
| rs201197171 | 17:66,979,938 | G/T | — | uncertain significance |
| rs2509687764 | 17:66,979,961 | C/G | — | uncertain significance |
| rs2509689390 | 17:66,980,222 | C/G | — | uncertain significance |
| rs770372382 | 17:66,980,227 | C/T | — | uncertain significance |
| rs768901915 | 17:66,980,263 | G/A | — | uncertain significance |
| rs374873743 | 17:66,980,306 | G/A | — | uncertain significance |
| rs117967396 | 17:66,981,032 | T/G | — | uncertain significance |
| rs61732707 | 17:66,981,234 | T/C | — | uncertain significance |
| rs191524893 | 17:66,982,342 | C/T | — | uncertain significance |
| rs145539118 | 17:66,983,911 | T/G | — | — |
| rs7220623 | 17:66,983,915 | G/T | — | — |
| rs764081085 | 17:66,985,188 | T/C | — | uncertain significance |
| rs201203339 | 17:66,986,056 | C/T | — | uncertain significance |
| rs753555996 | 17:66,986,062 | T/C | — | uncertain significance |
| rs375424989 | 17:66,986,988 | T/C | — | uncertain significance |
| rs755383775 | 17:66,986,993 | C/T | — | likely benign |
| rs781663929 | 17:66,986,995 | C/T | — | uncertain significance |
| rs569522639 | 17:66,988,349 | C/T | — | uncertain significance |
| rs1271811875 | 17:66,988,367 | C/T | — | uncertain significance |
| rs138920081 | 17:66,989,180 | T/C | — | uncertain significance |
| rs2509727022 | 17:66,989,214 | A/T | — | uncertain significance |
| rs762341894 | 17:66,992,058 | C/T | — | uncertain significance |
| rs2509736123 | 17:66,992,134 | C/T | — | uncertain significance |
| rs143799711 | 17:67,003,921 | A/C | — | uncertain significance |
| rs112499807 | 17:67,003,966 | A/G | — | likely benign |
| rs150518027 | 17:67,004,011 | G/A | — | likely benign |
| rs1207012934 | 17:67,004,235 | T/A | — | uncertain significance |
| rs143208550 | 17:67,004,310 | G/A | — | likely benign |
| rs17684420 | 17:67,005,261 | T/C | intron variant | — |
| rs143357343 | 17:67,005,636 | G/A | intron variant | — |
| rs1598369361 | 17:67,008,185 | A/C | — | uncertain significance |
| rs770362206 | 17:67,008,196 | C/T | — | uncertain significance |
| rs766379858 | 17:67,012,426 | G/A | — | uncertain significance |
| rs371563947 | 17:67,012,477 | G/C | — | uncertain significance |
| rs1365920456 | 17:67,013,885 | A/G | — | uncertain significance |
| rs138049166 | 17:67,013,919 | C/T | — | uncertain significance |
| rs1454055906 | 17:67,014,598 | T/G | — | likely benign |
| rs200396915 | 17:67,014,643 | G/A | — | uncertain significance |
| rs2509823798 | 17:67,014,688 | T/G | — | uncertain significance |
| rs376418483 | 17:67,016,544 | T/C | — | uncertain significance |
| rs768271528 | 17:67,016,571 | C/T | — | uncertain significance |
| rs764738392 | 17:67,016,572 | G/A | — | uncertain significance |
| rs61740908 | 17:67,016,614 | C/T | — | likely benign |
| rs142708396 | 17:67,017,963 | A/G | — | uncertain significance |
| rs146950365 | 17:67,017,982 | T/C | — | uncertain significance |
| rs372923960 | 17:67,017,990 | T/G | — | uncertain significance |
| rs2509847350 | 17:67,020,433 | A/G | — | likely benign |
| rs1384694018 | 17:67,020,468 | G/A | — | uncertain significance |
| rs1387909946 | 17:67,020,472 | C/A | — | uncertain significance |
| rs554612476 | 17:67,023,493 | A/G | — | uncertain significance |
| rs2509860072 | 17:67,023,508 | T/C | — | uncertain significance |
| rs1165719244 | 17:67,023,526 | C/T | — | uncertain significance |
| rs1282689608 | 17:67,023,571 | T/A | — | uncertain significance |
| rs779683420 | 17:67,023,587 | G/T | — | uncertain significance |
| rs1236536352 | 17:67,023,795 | C/T | — | uncertain significance |
| rs538535202 | 17:67,023,869 | T/C | — | uncertain significance |
| rs143613059 | 17:67,023,942 | A/T | — | uncertain significance |
| rs776664778 | 17:67,024,685 | G/A | — | uncertain significance |
| rs755795064 | 17:67,024,762 | C/A | — | uncertain significance |
| rs2509873312 | 17:67,028,252 | A/G | — | uncertain significance |
| rs1212072939 | 17:67,028,295 | A/T | — | likely benign |
| rs1397304256 | 17:67,028,307 | T/C | — | uncertain significance |
| rs761578039 | 17:67,028,351 | C/T | — | uncertain significance |
| rs2071241614 | 17:67,029,944 | A/G | — | uncertain significance |
| rs765589509 | 17:67,030,010 | A/G | — | uncertain significance |
| rs1161142897 | 17:67,031,401 | C/T | — | uncertain significance |
| rs1270559214 | 17:67,031,425 | G/T | — | uncertain significance |
| rs2509884898 | 17:67,031,460 | G/C | — | likely benign |
| rs2509884919 | 17:67,031,463 | T/C | — | uncertain significance |
| rs201472998 | 17:67,031,515 | C/T | — | uncertain significance |
| rs201325961 | 17:67,031,551 | T/C | — | uncertain significance |
| rs2509887039 | 17:67,031,827 | G/A | — | uncertain significance |
| rs777687596 | 17:67,031,829 | G/A | — | uncertain significance |
| rs1441880612 | 17:67,031,899 | C/T | — | uncertain significance |
| rs368599340 | 17:67,031,925 | A/G | — | uncertain significance |
| rs2509908168 | 17:67,039,642 | T/C | — | uncertain significance |
| rs200175568 | 17:67,039,700 | T/C | — | uncertain significance |
| rs758820062 | 17:67,039,702 | A/C | — | uncertain significance |
| rs2509908787 | 17:67,039,754 | A/C | — | uncertain significance |
| rs1288677106 | 17:67,039,833 | C/T | — | uncertain significance |
| rs373828683 | 17:67,039,834 | A/C | — | uncertain significance |
| rs753999541 | 17:67,040,652 | C/T | — | uncertain significance |
| rs1567969786 | 17:67,041,316 | A/G | — | uncertain significance |
| rs376673872 | 17:67,041,348 | C/T | — | uncertain significance |
| rs780668341 | 17:67,041,409 | C/T | — | uncertain significance |
| rs763108698 | 17:67,041,452 | A/C | — | uncertain significance |
| rs368110653 | 17:67,045,495 | A/G | — | uncertain significance |
| rs369236722 | 17:67,045,526 | C/A | — | uncertain significance |
| rs150105567 | 17:67,045,529 | G/C | — | uncertain significance |
| rs377484971 | 17:67,045,539 | C/T | — | uncertain significance |
| rs2071826960 | 17:67,045,558 | G/A | — | uncertain significance |
Showing 100 of 105 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.