rs383830
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | 1.9x risk |
| (A;T) | 1.6x risk | |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 100613278 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs383830 |
| dbSNP (classic) | rs383830 |
| ClinGen | rs383830 |
| ebi | rs383830 |
| HLI | rs383830 |
| Exac | rs383830 |
| Gnomad | rs383830 |
| Varsome | rs383830 |
| LitVar | rs383830 |
| Map | rs383830 |
| PheGenI | rs383830 |
| Biobank | rs383830 |
| 1000 genomes | rs383830 |
| hgdp | rs383830 |
| ensembl | rs383830 |
| geneview | rs383830 |
| scholar | rs383830 |
| rs383830 | |
| pharmgkb | rs383830 |
| gwascentral | rs383830 |
| openSNP | rs383830 |
| 23andMe | rs383830 |
| SNPshot | rs383830 |
| SNPdbe | rs383830 |
| MSV3d | rs383830 |
| GWAS Ctlg | rs383830 |
| GMAF | 0.208 |
| Max Magnitude | 2 |
| ? | (A;A) (A;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs383830 has been reported in a large study to be associated with heart disease, in particular, coronary artery disease.
The risk allele (oriented to the dbSNP entry) is (A); the odds ratio associated with heterozygotes is 1.60 (CI 1.16-2.21), and for homozygotes, 1.92 (CI 1.40-2.63). [PMID 17554300
]
[PMID 19956433] Genetics of coronary artery disease: focus on genome-wide association studies.
[PMID 21804106] Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration.
[PMID 26436499] Male-specific association of the APC rs383830 T allele with the risk of coronary heart disease
