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rs6756629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs6756629(A;A)
Make rs6756629(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position43837951
GeneABCG5, ABCG8
is asnp
is mentioned by
dbSNPrs6756629
ebirs6756629
HLIrs6756629
Exacrs6756629
Varsomers6756629
Maprs6756629
PheGenIrs6756629
hapmaprs6756629
1000 genomesrs6756629
hgdprs6756629
ensemblrs6756629
gopubmedrs6756629
geneviewrs6756629
scholarrs6756629
googlers6756629
pharmgkbrs6756629
gwascentralrs6756629
openSNPrs6756629
23andMers6756629
23andMe allrs6756629
SNP Nexus

SNPshotrs6756629
SNPdbers6756629
MSV3drs6756629
GWAS Ctlgrs6756629
GMAF0.07392
Max Magnitude0
? (A;A) (A;G) (G;G) 28

The 23andMe blog reports that the minor allele of this SNP (A) is associated with decreased LDL levels, increased HDL cholesterol levels, and decreased triglyceride levels.

DeCode reports that the G allele is associated with a lower risk of gallstone disease (cholelithiasis) [PMID 17632509].

SNP Rarer allele LDL HDL TG
rs6544713 T +
rs2650000 A +
rs471364 C -
rs1800961 T -
rs7679 C - +
rs2967605 T -
rs2409722 T -
rs10903129 A - - -
rs6756629 A - + -
rs12670798 C + + +
rs7395662 A - + +
rs174570 T - - +
rs2271293 A - + -
rs2624265 C +
rs2167079 T +
rs9891572 T +
rs4844614 T +
rs5031002 G +
GWAS snp
PMID [PMID 19060911OA-icon.png]
Trait Cholesterol, total
Title Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Risk Allele G
P-val 2E-11
Odds Ratio 0.15 [NR] SD increase




[PMID 15996216OA-icon.png] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.


[PMID 16507104OA-icon.png] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.


[PMID 20502693OA-icon.png] Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.


[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.


GET Evidence
ABCG5-R50C
aa_change Arg50Cys
aa_change_short R50C
impact protective
qualified_impact Low clinical importance, Likely protective
overall_frequency 0.0684142
summary This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels.



[PMID 24256507OA-icon.png] Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)