rs2230806
| Orientation | minus |
| Stabilized | minus |
| Make rs2230806(A;A) |
| Make rs2230806(A;G) |
| Make rs2230806(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 104858586 |
| Gene | ABCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2230806 |
| dbSNP (classic) | rs2230806 |
| ClinGen | rs2230806 |
| ebi | rs2230806 |
| HLI | rs2230806 |
| Exac | rs2230806 |
| Gnomad | rs2230806 |
| Varsome | rs2230806 |
| LitVar | rs2230806 |
| Map | rs2230806 |
| PheGenI | rs2230806 |
| Biobank | rs2230806 |
| 1000 genomes | rs2230806 |
| hgdp | rs2230806 |
| ensembl | rs2230806 |
| geneview | rs2230806 |
| scholar | rs2230806 |
| rs2230806 | |
| pharmgkb | rs2230806 |
| gwascentral | rs2230806 |
| openSNP | rs2230806 |
| 23andMe | rs2230806 |
| SNPshot | rs2230806 |
| SNPdbe | rs2230806 |
| MSV3d | rs2230806 |
| GWAS Ctlg | rs2230806 |
| GMAF | 0.4192 |
| Max Magnitude | 0 |
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 | 600046 |
| Desc | CORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST |
| Variant | 0024 |
| Related | also |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 22668585
] Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses
| ClinVar | |
|---|---|
| Risk | rs2230806(A;A) |
| Alt | rs2230806(A;A) |
| Reference | rs2230806(G;G) |
| Significance | Other |
| Disease | Coronary heart disease in familial hypercholesterolemia Familial High Density Lipoprotein Deficiency Tangier disease |
| Variation | info |
| Gene | ABCA1 |
| CLNDBN | Coronary heart disease in familial hypercholesterolemia, protection against Familial High Density Lipoprotein Deficiency Tangier disease |
| Reversed | 1 |
| HGVS | NC_000009.11:g.107620867C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010114.2, RCV000310562.1, RCV000367106.1, |
[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] ABCA1 polymorphisms and Alzheimer's disease.
[PMID 17430597] Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.
[PMID 17553166] The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile.
[PMID 18974877] Modifier effects between regulatory and protein-coding variation.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19606474] 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] 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.
[PMID 23111454] Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease
[PMID 23021345] Gene-diet interactions on plasma lipid levels in the Inuit population.
[PMID 23372063] Genetic determination of plasma cholesterol efflux capacity is gender-specific and independent of HDL-cholesterol levels.
[PMID 23533563] Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.
[PMID 24854628] ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment
[PMID 26243156] Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents
[PMID 26451383] Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians
[PMID 29133174] ABCA1 rs2230805 and rs2230806 common gene variants are associated with Alzheimer's disease.
[PMID 31006134] ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.
[PMID 33450693] Novel associations of SNPs MYLIP rs3757354 and ABCA1 2230806 gene with early-onset-preeclampsia: A case-control candidate genetic study.
