{{Rsnum
|rsid=2230806
|Gene=ABCA1
|Chromosome=9
|position=104858586
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4192
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ABCA1
}}[[rs2230806]], also known as Arg219Lys or R219K, is a SNP in the [[ABCA1]] ATP-binding cassette, sub-family A (ABC1), member 1 gene. The [[rs2230806]](G) allele encodes the arginine (R), and the (A) allele encodes the lysine (K).

A meta-analysis published in 2011 comprising 22 studies with 6597 cases and 15,369 controls studied the association between the [[rs2230806]] and risk for [[coronary artery disease]]. Overall, [[rs2230806]](A) significantly associated with a higher HDL-C level in Asians and does lower the risk (odds ratio 0.76, CI: 0.68-0.85, p=3.78e-07) of [[coronary artery disease]] in Asians and Caucasians.{{PMID|21310416}}

{{omim
|desc=CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST
|id=600046
|rsnum=2230806
|variant=0024
}}

{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.5 | 33.0 | 62.5
| HCB | 21.2 | 48.2 | 30.7
| JPT | 15.0 | 56.6 | 28.3
| YRI | 61.1 | 35.4 | 3.5
| ASW | 47.4 | 31.6 | 21.1
| CHB | 21.2 | 48.2 | 30.7
| CHD | 14.7 | 47.7 | 37.6
| GIH | 17.8 | 40.6 | 41.6
| LWK | 48.6 | 44.0 | 7.3
| MEX | 13.8 | 39.7 | 46.6
| MKK | 42.9 | 50.6 | 6.4
| TSI | 5.9 | 52.9 | 41.2
| HapMapRevision=28
}}
{{PharmGKB
|RSID=rs2230806
|Name_s=ABCA1:Arg219Lys
|Gene_s=ABCA1
|Feature=
|Evidence=PubMed ID:12870173; PubMed ID:15044381
|Annotation=The ABCA1:Arg219Lys K allele frequency differs markedly between blacks and whites, and the variant-allele modulates the association between age and HDL cholesterol, as well as body fatness and triglycerides in a beneficial manner only in whites.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA162361483
}}

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

{{ClinVar
|rsid=2230806
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=107620867
|CHROM=9
|GMAF=0.4194
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x05016800000017051f110101
|GENEINFO=ABCA1:19
|GENE_NAME=ABCA1
|GENE_ID=19
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000009.11:g.107620867C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=RV;PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.5808; 0.4192
|CLNACC=RCV000010114.1
|CLNDBN=Coronary heart disease in familial hypercholesterolemia, protection against
|CLNDSDB=MedGen
|CLNDSDBID=C1838721
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=600046.0024
|COMMON=1
|Disease=Coronary heart disease in familial hypercholesterolemia
}}

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

{{PMID|16725228}} Gender-specific association of ATP-binding cassette transporter 1 (ABCA1) polymorphisms with the risk of late-onset 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|18974877|OA=1
}} Modifier effects between regulatory and protein-coding variation.

{{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|20170916}} Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.

{{PMID|20185793|OA=1
}} ABCA1 gene variants regulate postprandial lipid metabolism in healthy men.

{{PMID|20797885}} Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects.

{{GET Evidence
|gene=ABCA1
|aa_change=Arg219Lys
|aa_change_short=R219K
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2230806
|overall_frequency_n=4225
|overall_frequency_d=10758
|overall_frequency=0.392731
|n_genomes=37
|n_genomes_annotated=0
|n_haplomes=48
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|in_omim=Y
|in_pharmgkb=Y
|genetests_testable=Y
|nblosum100=-3
|autoscore=3
|webscore=N
|n_web_uneval=10
|summary_short= 
}}

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

{{PMID Auto
|PMID=23021345
|Title=Gene-diet interactions on plasma lipid levels in the Inuit population.
}}

{{PMID Auto
|PMID=23372063
|Title=Genetic determination of plasma cholesterol efflux capacity is gender-specific and independent of HDL-cholesterol levels.
}}

{{PMID Auto
|PMID=23533563
|Title=Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=24854628
|Title=ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}