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ABCA1

From SNPedia

is agene
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Full nameATP-binding cassette, sub-family A (ABC1), member 1
EntrezGene19
PheGenI19
VariationViewer19
ClinVarABCA1
dbSNP19
SADR19
HugeNav19
wikipediaABCA1
googleABCA1
gopubmedABCA1
EVSABCA1
HEFalMpABCA1
MyGene2ABCA1
23andMeABCA1
UniProtO95477
EnsemblENSG00000165029
OMIM600046
# SNPs47
 Max MagnitudeChromosome positionSummary
rs120039060104,883,196
rs12686004104,891,145
rs1378544940104,806,276
rs1378544950104,822,514
rs1378544960104,831,048
rs1378544970104,804,668
rs1378544980104,798,504
rs1378544990104,788,469
rs1378545000104,814,154
rs1378545010104,786,940
rs1378545020104,831,098
rs18009770104,928,169
rs1883025104,902,020
rs2020927104,790,904
rs2066714104,824,472
rs20667150104,825,752
rs2230806104,858,586
rs2230808104,800,523
rs2249891104,861,961
rs22974040104,802,185
rs2422493104,928,714
rs25156290104,832,083
rs2575876104,903,458
rs28535780104,831,027
rs2853579104,828,991
rs28587567104,825,752
rs289336920104,818,830
rs289373130104,822,520
rs289373140104,822,521
rs363717104,782,419
rs3879064120104,828,949
rs3879064130104,830,993
rs3879064140104,818,781
rs3879064150104,814,169
rs38901820104,885,374
rs39050000104,894,789
rs4149263104,915,008
rs41492682104,884,939
rs41492741.5104,877,133
rs4149310104,826,853
rs4149311104,826,496
rs4149313104,824,472
rs4149338104,783,622
rs4149339104,782,875
rs7031748104,828,991
rs7960518720104,816,142
rs92825410104,858,554

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.