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 March 29, 2011 at 8:55pm 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
hu0D879F - CGI sample GS00253-DNA_G01_200_37 het T @ chr9:107620867
hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants het T @ chr9:106660688
hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants het T @ chr9:106660688
hu9385BA - CGI sample GS00253-DNA_E01_200_37 hom T @ chr9:107620867
huAE6220 - CGI sample GS00253-DNA_H01_200_37 het T @ chr9:107620867
huC30901 - CGI sample GS00253-DNA_B01_200_37 het T @ chr9:107620867
Added in this revision:
GS06994 - var-GS06994-1100-36-ASM het T @ chr9:106660688
GS07357 - var-GS07357-1100-36-ASM het T @ chr9:106660688
GS18501 - var-GS18501-1100-36-ASM het T @ chr9:106660688
GS18502 - var-GS18502-1100-36-ASM het T @ chr9:106660688
GS18504 - var-GS18504-1100-36-ASM het T @ chr9:106660688
GS18505 - var-GS18505-1100-36-ASM het T @ chr9:106660688
NA07022
NA12878
NA18507
NA18517
NA18555
NA18956
NA19129
NA19240
snp-1
snp-2
snp-27
snp-28
snp-29
snp-30
snp-31
snp-6