rs5888

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
google	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.