{{Rsnum
|rsid=2230808
|Gene=ABCA1
|Chromosome=9
|position=104800523
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.4109
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ABCA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 1.8 | 36.3 | 61.9
| HCB | 16.8 | 46.7 | 36.5
| JPT | 8.8 | 48.7 | 42.5
| YRI | 83.7 | 15.6 | 0.7
| ASW | 47.4 | 40.4 | 12.3
| CHB | 16.8 | 46.7 | 36.5
| CHD | 11.9 | 51.4 | 36.7
| GIH | 15.8 | 43.6 | 40.6
| LWK | 66.4 | 30.0 | 3.6
| MEX | 5.2 | 43.1 | 51.7
| MKK | 54.5 | 42.3 | 3.2
| TSI | 3.9 | 40.2 | 55.9
| HapMapRevision=28
}}{{PMID|17510949}}  [[rs2297404]], [[rs2230808]], and [[rs2020927]] haplotype (CAC) was more prevalent in the [[Alzheimer's disease]] group (0.323 in AD vs. 0.202 in control); while haplotype1 (TGG) was over-represented in the healthy controls (0.595 in control vs. 0.493 in AD)

{{PMID Auto
|PMID=22668585
|Title=Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses
|OA=1
}}

{{PMID|12600718}} ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease.

{{PMID|17324514|OA=1
}} ABCA1 polymorphisms and Alzheimer's disease.

{{PMID|17430597|OA=1
}} Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.

{{PMID|17553166|OA=1
}} The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile.

{{PMID|19041386|OA=1
}} Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

{{PMID|19606474|OA=1
}} A survey of ABCA1 sequence variation confirms association with dementia.

{{PMID|21839797}} A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes.

{{GET Evidence
|gene=ABCA1
|aa_change=Lys1587Arg
|aa_change_short=K1587R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2230808
|overall_frequency_n=6256
|overall_frequency_d=10758
|overall_frequency=0.581521
|n_genomes=38
|n_genomes_annotated=0
|n_haplomes=58
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-3
|autoscore=2
|n_web_uneval=3
}}

{{PMID Auto
|PMID=23111454
|Title=Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}