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rs2230806

From SNPedia

Orientationminus
Stabilizedminus
Make rs2230806(A;A)
Make rs2230806(A;G)
Make rs2230806(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104858586
GeneABCA1
is asnp
is mentioned by
dbSNPrs2230806
ebirs2230806
HLIrs2230806
Exacrs2230806
Varsomers2230806
Maprs2230806
PheGenIrs2230806
hapmaprs2230806
1000 genomesrs2230806
hgdprs2230806
ensemblrs2230806
gopubmedrs2230806
geneviewrs2230806
scholarrs2230806
googlers2230806
pharmgkbrs2230806
gwascentralrs2230806
openSNPrs2230806
23andMers2230806
23andMe allrs2230806
SNP Nexus

SNPshotrs2230806
SNPdbers2230806
MSV3drs2230806
GWAS Ctlgrs2230806
GMAF0.4192
Max Magnitude
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]

OMIM600046
DescCORONARY HEART DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST
Variant0024
Relatedalso
? (A;A) (A;G) (G;G) 28
[PMID 22668585OA-icon.png] 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
Variation info
Gene ABCA1
CLNDBN Coronary heart disease in familial hypercholesterolemia, protection against
Reversed 1
HGVS NC_000009.11:g.107620867C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010114.2,



[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 17324514OA-icon.png] ABCA1 polymorphisms and Alzheimer's disease.

[PMID 17430597OA-icon.png] Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.

[PMID 17553166OA-icon.png] The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile.

[PMID 18974877OA-icon.png] Modifier effects between regulatory and protein-coding variation.

[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

[PMID 19606474OA-icon.png] 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 20185793OA-icon.png] 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
ABCA1-R219K
aa_change Arg219Lys
aa_change_short R219K
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.392731
summary



[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 23533563OA-icon.png] Novel risk factors for premature peripheral arterial occlusive disease in non-diabetic patients: a case-control study.


[PMID 24854628OA-icon.png] 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 26451383OA-icon.png] Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians