rs5888
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 1.5 | higher HDL cholesterol but lower risk for age-related macular degeneration |
(C;T) | 2.5 | 3x higher risk for age-related macular degeneration |
(T;T) | 2 | lower HDL cholesterol but higher risk for age-related macular degeneration |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 124800202 |
Gene | SCARB1 |
is a | snp |
is | mentioned by |
dbSNP | rs5888 |
dbSNP (classic) | rs5888 |
ClinGen | rs5888 |
ebi | rs5888 |
HLI | rs5888 |
Exac | rs5888 |
Gnomad | rs5888 |
Varsome | rs5888 |
LitVar | rs5888 |
Map | rs5888 |
PheGenI | rs5888 |
Biobank | rs5888 |
1000 genomes | rs5888 |
hgdp | rs5888 |
ensembl | rs5888 |
geneview | rs5888 |
scholar | rs5888 |
rs5888 | |
pharmgkb | rs5888 |
gwascentral | rs5888 |
openSNP | rs5888 |
23andMe | rs5888 |
SNPshot | rs5888 |
SNPdbe | rs5888 |
MSV3d | rs5888 |
GWAS Ctlg | rs5888 |
GMAF | 0.331 |
Max Magnitude | 2.5 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
rs5888 is a SNP in the scavenger receptor class B, member 1 SCARB1 gene.
In a case-control study of two Caucasian populations totaling 2,498 patients, rs5888(C;T) heterozygotes had an increased odds ratio of 2.9 (CI: 1.6-5.3, p<0.002) for age-related macular degeneration (ARMD) based on a pooled analysis. Subgroup analysis indicated that the odds ratio for exudative forms of ARMD was even higher (3.6; CI: 1.7-7.6, p>0.0015) for rs5888(C;T) heterozygotes. [PMID 19806217]
[PMID 21531995] Clinical impact of scavenger receptor class B type I gene polymorphisms on human female fertility
[PMID 17476110] Variants in scavenger receptor class B type I gene are associated with HDL cholesterol levels in younger women.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19158204] Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia.
[PMID 20060115] A synonymous variant in scavenger receptor, class B, type I gene is associated with lower SR-BI protein expression and function.
[PMID 20085651] Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study.
[PMID 20664795] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.
[PMID 22182283] The Srb1+1050T allele is associated with metabolic syndrome in children but not with cholesteryl ester plasma concentrations of high-density lipoprotein subclasses.
[PMID 22583964] Association of rs5888 SNP in the scavenger receptor class B type 1 gene and serum lipid levels.
[PMID 23039238] Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels
[PMID 23091409] The SCARB1 rs5888 SNP and Serum Lipid Levels in the Guangxi Mulao and Han Populations
[PMID 23510561] SCARB1 single nucleotide polymorphism (rs5888) is associated with serum lipid profile and myocardial infarction in an age- and gender-dependent manner
[PMID 24151447] Scavenger Receptor Class B Type 1 Gene rs5888 Single Nucleotide Polymorphism and the Risk of Coronary Artery Disease and Ischemic Stroke: A Case-Control Study
[PMID 22573014] Association of several lipid-related gene polymorphisms and blood pressure variation in the Bai Ku Yao population.
[PMID 23355348] Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits.
[PMID 26754576] The rs5888 single nucleotide polymorphism in scavenger receptor class B type 1 (SCARB1) gene and the risk of premature coronary artery disease: a case-control study.
[PMID 27428740] SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area.
[PMID 28363797] Scavenger receptor class B member 1 (SCARB1) variants modulate hepatitis C virus replication cycle and viral load.