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Curation:

Currentness:

(See the latest version)

ABCA1 R219K

(ABCA1 Arg219Lys)

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Variant evidence
Computational		-

Functional		-

Case/Control		-

Familial		-


Clinical importance
Severity		-

Treatability		-

Penetrance		-

Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

unknown

Allele frequency

T @ chr9:107620867: 39.3% (4225/10758) in EVS
T @ chr9:106660687: 39.1% (50/128) in GET-Evidence
Frequency shown in summary reports: 39.3% (4225/10758)

Publications

Genomes

Added in this revision:

Other external references

dbSNP

rs2230806
www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

GeneTests

GeneTests records for the ABCA1 gene
ABCA1-Associated Familial High Density Lipoprotein Deficiency
Familial High Density Lipoprotein Deficiency
Tangier Disease
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA1

OMIM

Coronary heart disease in familial hypercholesterolemia, protection against
www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600046

PharmGKB

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.
www.ncbi.nlm.nih.gov/pubmed/12870173; PubMed ID:15044381

Web search results (730 hits -- see all)

Decreased Frequencies of ABCA1 Polymorphisms R219K and V771M ...
Karger is a medical publisher, scientific publisher and biomedical publisher of print and online journals and books.
content.karger.com/produktedb/produkte.asp?typ=fulltext&...
BioMed Central | Full text | The effect of ABCA1 gene ...
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile ... ABCA1-3 (G1051A; R219K) "G" allele frequency (R variant) was 68.2% in ...
www.biomedcentral.com/1471-2350/8/30
Common Genetic Variation in ABCA1 Is Associated With Altered ...
Common Genetic Variation in ABCA1 Is Associated With Altered Lipoprotein Levels and a ... here that a common ABCA1 cSNP, R219K, is associated with decreased TG, ...
circ.ahajournals.org/cgi/content/full/0515174103
Toll-like receptor 4 variant D299G is associated with ...
of the K allele of ABCA1-R219K (associated with reduced. risk of ... theless, ABCA1-R219K further contributed to the additive. effect and the risk of AMD was increased by 4-fold ...
hmg.oxfordjournals.org/cgi/reprint/14/11/1449.pdf
BioMed Central | Abstract | The effect of ABCA1 gene ...
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile ... Individuals who had R219K "22" genotype had a higher LDL level (p = 0. ...
www.biomedcentral.com/1471-2350/8/30/abstract
Directory of open access journals
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship ... for a modest difference in the ABCA1 R219K allele frequency (P-value = 0.05) ...
www.doaj.org/doaj?func=abstract&id=213127&recNo=29&toc=1
cSNP analysis of the ABCA1 gene: Common variant lowers ...
cSNP analysis of the ABCA1 gene: Common variant lowers riskfor ... that Europeans carrying the R219K variant of the ABCA1 gene had less severe coronary ...
www.genomenewsnetwork.org/articles/03_01/cSNP_ABCA1.shtml
Toll-like receptor 4 variant D299G is associated with ...
Interaction of TLR4-D299G with ABCA1-R219K and APOE variants ... APOE and ABCA1-R219K genotypes were obtained using previously described methods ...
hmg.oxfordjournals.org/cgi/content/full/14/11/1449
Common Genetic Variation in ABCA1 Is Associated With Altered ...
Atherosclerosis progresses more slowly in carriers of R219K than in noncarriers. ... here that a common ABCA1 cSNP, R219K, is associated with decreased TG, ...
circ.ahajournals.org/cgi/content/full/103/9/1198
The effect of ABCA1 gene polymorphisms on ischaemic stroke ...
The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile ... ABCA1-3 (G1051A; R219K) "G" allele frequency (R variant) was 68.2% in ...
www.ncbi.nlm.nih.gov/pmc/articles/PMC1894956

Other in silico analyses

NBLOSUM100 score = –3
GET-Evidence autoscore = 3

Edit history

Nov 29 2012 Genome Importing Robot added CGI sample GS01669-DNA_H05 from PGP sample 10971581 view
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Mar 5 2012 Genome Importing Robot added CGI sample GS000006909 view
Aug 1 2011 Han Luu edited variant summary view
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Jan 7 2010 Alexander Wait Zaranek edited variant summary view
Jan 7 2010 Alexander Wait Zaranek added article 12624133 view
Jan 7 2010 Alexander Wait Zaranek added article 16372134 view
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Dec 27 2009 Genome Importing Robot added [NA07022] view
Dec 27 2009 Genome Importing Robot added Stephen Quake view
Dec 27 2009 Genome Importing Robot added [NA18507] view
Dec 27 2009 Genome Importing Robot added [NA19240] view
Dec 27 2009 Genome Importing Robot added [NA19129] view
Dec 27 2009 Genome Importing Robot added [NA18956] view
Dec 27 2009 Genome Importing Robot added [NA18555] view
Dec 27 2009 Genome Importing Robot added [NA18517] view
Dec 27 2009 Genome Importing Robot added [NA12878] view
Dec 27 2009 Genome Importing Robot added [snp-2] view
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Dec 27 2009 Genome Importing Robot added variant view

ABCA1 R219K - GET-Evidence

ABCA1 R219K

Allele frequency

Publications

Genomes

Other external references

Other in silico analyses

Edit history

Gene search

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ABCA1 R219K - GET-Evidence

ABCA1 R219K

Allele frequency

Publications

Moved Permanently

Moved Permanently

Genomes

Other external references

Other in silico analyses

Edit history

Gene search

Log in