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rs2230808

From SNPedia

Orientationminus
Stabilizedminus
Make rs2230808(A;A)
Make rs2230808(A;G)
Make rs2230808(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104800523
GeneABCA1
is asnp
is mentioned by
dbSNPrs2230808
ebirs2230808
HLIrs2230808
Exacrs2230808
Varsomers2230808
Maprs2230808
PheGenIrs2230808
hapmaprs2230808
1000 genomesrs2230808
hgdprs2230808
ensemblrs2230808
gopubmedrs2230808
geneviewrs2230808
scholarrs2230808
googlers2230808
pharmgkbrs2230808
gwascentralrs2230808
openSNPrs2230808
23andMers2230808
23andMe allrs2230808
SNP Nexus

SNPshotrs2230808
SNPdbers2230808
MSV3drs2230808
GWAS Ctlgrs2230808
GMAF0.4109
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 17510949] rs2297404, rs2230808, and rs2020927 haplotype (CAC) was more prevalent in the Alzheimer's disease group (0.323 in AD vs. 0.202 in control); while haplotype1 (TGG) was over-represented in the healthy controls (0.595 in control vs. 0.493 in AD)


[PMID 22668585OA-icon.png] Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses

[PMID 12600718] ABCA1 modulates CSF cholesterol levels and influences the age at onset of 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 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 21839797] A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes.


GET Evidence
ABCA1-K1587R
aa_change Lys1587Arg
aa_change_short K1587R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.581521
summary



[PMID 23111454] Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease


[PMID 26722555] Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.