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rs9282541

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common
Make rs9282541(C;T)
Make rs9282541(T;T)
ReferenceGRCh38 38.1/142
Chromosome9
Position104858554
GeneABCA1
is asnp
is mentioned by
dbSNPrs9282541
dbSNP (classic)rs9282541
ClinGenrs9282541
ebirs9282541
HLIrs9282541
Exacrs9282541
Gnomadrs9282541
Varsomers9282541
LitVarrs9282541
Maprs9282541
PheGenIrs9282541
Biobankrs9282541
1000 genomesrs9282541
hgdprs9282541
ensemblrs9282541
geneviewrs9282541
scholarrs9282541
googlers9282541
pharmgkbrs9282541
gwascentralrs9282541
openSNPrs9282541
23andMers9282541
SNPshotrs9282541
SNPdbers9282541
MSV3drs9282541
GWAS Ctlgrs9282541
GMAF0.007346
Max Magnitude0
? (C;C) (C;T) (T;T) 28


GWAS snp
PMID [PMID 23505323OA-icon.png]
Trait HDL cholesterol
Title Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
Risk Allele A
P-val 6E-26
Odds Ratio .37 [0.29-0.45] unit decrease


[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 20418488OA-icon.png] A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.


[PMID 20797885] Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects.


[PMID 26451383OA-icon.png] Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians


[PMID 28101933] Associations of common variants in the SLC16A11, TCF7L2, and ABCA1 genes with pediatric-onset type 2 diabetes and related glycemic traits in families: A case-control and case-parent trio study.


ClinVar
Risk rs9282541(T;T)
Alt rs9282541(T;T)
Reference Rs9282541(C;C)
Significance Non-pathogenic
Disease Tangier disease Familial High Density Lipoprotein Deficiency
Variation info
Gene ABCA1
CLNDBN Tangier disease Familial High Density Lipoprotein Deficiency
Reversed 1
HGVS NC_000009.11:g.107620835G>A
CLNSRC
CLNACC RCV000288241.1, RCV000402915.1,



[PMID 31006134OA-icon.png] ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.


[PMID 31796261] Contribution of genetic, biochemical and environmental factors on insulin resistance and obesity in Mexican young adults.