Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.
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(ABCA1 Arg219Lys)
You are viewing an old version of this page that was saved on May 19, 2010 at 6:28pm by Genome Importing Robot.
Short summary
Impact
Insufficiently evaluated pharmacogenetic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Inheritance pattern
unknown
Summary of published research, and additional commentary
Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, Alonso R, Mata P, Pocoví M, Civeira F; Spanish FH group. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J Med Genet. 2003 Mar;40(3):163-8. PubMed PMID: 12624133; PubMed Central PMCID: PMC1735389.
Katzov H, Bennet AM, Höglund K, Wiman B, Lütjohann D, Brookes AJ, Andreasen N, Blennow K, De Faire U, Prince JA. Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levels. J Hum Genet. 2006;51(3):171-9. Epub 2005 Dec 22. PubMed PMID: 16372134.
hu034DB1 - CGI sample GS00253-DNA_A02_200_37 het T @ chr9:107620867
hu9385BA - CGI sample GS00253-DNA_E01_200_37 hom T @ chr9:107620867
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het T @ chr9:107620867
Added in this revision:
huC30901 - CGI sample GS00253-DNA_B01_200_37 het T @ chr9:107620867
NA07022
NA12878
NA18507
NA18517
NA18555
NA18956
NA19129
NA19240
snp-1
snp-2
snp-26
snp-27
snp-28
snp-29
snp-30
snp-31
snp-32
snp-6