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rs4149313

From SNPedia

Merged intors2066714
Orientationminus
Stabilizedminus
Make rs4149313(A;A)
Make rs4149313(A;G)
Make rs4149313(G;G)
ReferenceGRCh38 38.1/141
Chromosome9
Position104824472
GeneABCA1
is asnp
is mentioned by
dbSNPrs4149313
ebirs4149313
HLIrs4149313
Exacrs4149313
Varsomers4149313
Maprs4149313
PheGenIrs4149313
hapmaprs4149313
1000 genomesrs4149313
hgdprs4149313
ensemblrs4149313
gopubmedrs4149313
geneviewrs4149313
scholarrs4149313
googlers4149313
pharmgkbrs4149313
gwascentralrs4149313
openSNPrs4149313
23andMers4149313
23andMe allrs4149313
SNP Nexus

SNPshotrs4149313
SNPdbers4149313
MSV3drs4149313
GWAS Ctlgrs4149313
StatusMerged into rs2066714
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene ABCA1
allele C
frequency 0.133
sift TOLERATED
HuRef 1103652149294
Disease Association Defects in ABCA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) (MIM:604091); also known as familial hypoalphalipoproteinemia (FHA). HDLD2 is inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.



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


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


[PMID 23262498] Impact of geneticfactorsondyslipidemia in HIV-infected patients starting antiretroviral therapy