rs6756629
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs6756629(A;A) |
| Make rs6756629(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 43837951 |
| Gene | ABCG5, ABCG8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6756629 |
| dbSNP (classic) | rs6756629 |
| ClinGen | rs6756629 |
| ebi | rs6756629 |
| HLI | rs6756629 |
| Exac | rs6756629 |
| Gnomad | rs6756629 |
| Varsome | rs6756629 |
| LitVar | rs6756629 |
| Map | rs6756629 |
| PheGenI | rs6756629 |
| Biobank | rs6756629 |
| 1000 genomes | rs6756629 |
| hgdp | rs6756629 |
| ensembl | rs6756629 |
| geneview | rs6756629 |
| scholar | rs6756629 |
| rs6756629 | |
| pharmgkb | rs6756629 |
| gwascentral | rs6756629 |
| openSNP | rs6756629 |
| 23andMe | rs6756629 |
| SNPshot | rs6756629 |
| SNPdbe | rs6756629 |
| MSV3d | rs6756629 |
| GWAS Ctlg | rs6756629 |
| GMAF | 0.07392 |
| Max Magnitude | 0 |
| ? | (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 19060911 ]
|
| 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 15996216] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20502693] 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.
[PMID 24256507] Lipid trait-associated genetic variation is associated with gallstone disease in the diverse Third National Health and Nutrition Examination Survey (NHANES III)
| ClinVar | |
|---|---|
| Risk | rs6756629(A;A) rs6756629(C;C) |
| Alt | rs6756629(A;A) rs6756629(C;C) |
| Reference | Rs6756629(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Sitosterolemia not specified |
| Variation | info |
| Gene | ABCG5 ABCG8 |
| CLNDBN | Sitosterolemia not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.44065090G>A |
| CLNSRC | |
| CLNACC | RCV000272378.1, RCV000365368.1, |
