rs41360247
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs41360247(C;C) |
| Make rs41360247(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 43846517 |
| Gene | ABCG8, LOC102725159 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41360247 |
| dbSNP (classic) | rs41360247 |
| ClinGen | rs41360247 |
| ebi | rs41360247 |
| HLI | rs41360247 |
| Exac | rs41360247 |
| Gnomad | rs41360247 |
| Varsome | rs41360247 |
| LitVar | rs41360247 |
| Map | rs41360247 |
| PheGenI | rs41360247 |
| Biobank | rs41360247 |
| 1000 genomes | rs41360247 |
| hgdp | rs41360247 |
| ensembl | rs41360247 |
| geneview | rs41360247 |
| scholar | rs41360247 |
| rs41360247 | |
| pharmgkb | rs41360247 |
| gwascentral | rs41360247 |
| openSNP | rs41360247 |
| 23andMe | rs41360247 |
| SNPshot | rs41360247 |
| SNPdbe | rs41360247 |
| MSV3d | rs41360247 |
| GWAS Ctlg | rs41360247 |
| GMAF | 0.07759 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| Rs41360247 | |
|---|---|
| PubMed | [PMID 17632509] |
| Affy Probeset | SNP_A-1791411 |
| Affy Orientation | same |
| On GW 5.0 | 1 |
| Alleles A/B | C/T |
| Ancestral | |
| Population | EU(German) |
| Allele | C |
| Case Freq. | 0.18 |
| Control Freq. | 0.05 |
| Odds Ratio Het | |
| Odds Ratio Hom | |
| Odds Ratio All | 2.30 |
| Disease | Gallstone disease (GSD) |
rs41360247 increases susceptibility to Gallstone disease 2.30 times for carriers of the C allele [PMID 17632509]
[PMID 20529992] Genetic Regulation of Serum Phytosterol Levels and Risk of Coronary Artery Disease
[PMID 23707316] High intestinal cholesterol absorption is associated with cardiovascular disease and risk alleles in ABCG8 and ABO: evidence from the LURIC and YFS cohorts and from a meta-analysis
