ABCA1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | ATP-binding cassette, sub-family A (ABC1), member 1 |
| EntrezGene | 19 |
| PheGenI | 19 |
| VariationViewer | 19 |
| ClinVar | ABCA1 |
| GeneCards | ABCA1 |
| dbSNP | 19 |
| Diseases | ABCA1 |
| SADR | 19 |
| HugeNav | 19 |
| wikipedia | ABCA1 |
| ABCA1 | |
| gopubmed | ABCA1 |
| EVS | ABCA1 |
| HEFalMp | ABCA1 |
| MyGene2 | ABCA1 |
| 23andMe | ABCA1 |
| UniProt | O95477 |
| Ensembl | ENSG00000165029 |
| OMIM | 600046 |
| # SNPs | 52 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs12003906 | 0 | 104,883,196 | |
| rs12686004 | 0 | 104,891,145 | |
| rs137854494 | 0 | 104,806,276 | |
| rs137854495 | 0 | 104,822,514 | |
| rs137854496 | 0 | 104,831,048 | |
| rs137854497 | 0 | 104,804,668 | |
| rs137854498 | 0 | 104,798,504 | |
| rs137854499 | 0 | 104,788,469 | |
| rs137854500 | 0 | 104,814,154 | |
| rs137854501 | 0 | 104,786,940 | |
| rs137854502 | 0 | 104,831,098 | |
| rs146292819 | 0 | 104,794,495 | |
| rs1800977 | 0 | 104,928,169 | |
| rs1883025 | 0 | 104,902,020 | |
| rs2020927 | 0 | 104,790,904 | |
| rs2066714 | 0 | 104,824,472 | |
| rs2066715 | 0 | 104,825,752 | |
| rs2066718 | 0 | 104,826,974 | |
| rs2230805 | 0 | 104,861,748 | |
| rs2230806 | 0 | 104,858,586 | |
| rs2230808 | 0 | 104,800,523 | |
| rs2249891 | 0 | 104,861,961 | |
| rs2297404 | 0 | 104,802,185 | |
| rs2422493 | 0 | 104,928,714 | |
| rs2515629 | 0 | 104,832,083 | |
| rs2575876 | 0 | 104,903,458 | |
| rs2740483 | 0 | 104,928,254 | |
| rs2853578 | 0 | 104,831,027 | |
| rs2853579 | 0 | 104,828,991 | |
| rs28587567 | 0 | 104,825,752 | |
| rs28933692 | 0 | 104,818,830 | |
| rs28937313 | 0 | 104,822,520 | |
| rs28937314 | 0 | 104,822,521 | |
| rs363717 | 0 | 104,782,419 | |
| rs387906412 | 0 | 104,828,949 | |
| rs387906413 | 0 | 104,830,993 | |
| rs387906414 | 0 | 104,818,781 | |
| rs387906415 | 0 | 104,814,169 | |
| rs3890182 | 0 | 104,885,374 | |
| rs3905000 | 0 | 104,894,789 | |
| rs4149263 | 0 | 104,915,008 | |
| rs4149268 | 2 | 104,884,939 | |
| rs4149274 | 1.5 | 104,877,133 | |
| rs4149310 | 0 | 104,826,853 | |
| rs4149311 | 0 | 104,826,496 | |
| rs4149313 | 0 | 104,824,472 | |
| rs4149338 | 0 | 104,783,622 | |
| rs4149339 | 0 | 104,782,875 | |
| rs7031748 | 0 | 104,828,991 | |
| rs796051872 | 0 | 104,816,142 | |
| ... further results | |||
ABCA1, ATP-binding cassette A1, is a protein transporter that is a major regulator of cellular lipids. It is expressed throughout the body, particularly in the liver and small intestine.
It is associated with Tangier disease and familial Hypoalphalipoproteinemia (HDL deficiency) and may affect atherosclerosis.
rs1883025 was found by Teslovich et al. (2010) to lower HDL cholesterol by 0.94 mg/dL.
A women heterozygous for missense mutation V2091I in ABCA1 had very low HDL despite another mutation in SCARB1 that causes very high HDL. Brunham et al. (2011)
rs3890182 (74A-G) affects HDL levels.
