rs1367117
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1367117(A;A) |
| Make rs1367117(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 21041028 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1367117 |
| dbSNP (classic) | rs1367117 |
| ClinGen | rs1367117 |
| ebi | rs1367117 |
| HLI | rs1367117 |
| Exac | rs1367117 |
| Gnomad | rs1367117 |
| Varsome | rs1367117 |
| LitVar | rs1367117 |
| Map | rs1367117 |
| PheGenI | rs1367117 |
| Biobank | rs1367117 |
| 1000 genomes | rs1367117 |
| hgdp | rs1367117 |
| ensembl | rs1367117 |
| geneview | rs1367117 |
| scholar | rs1367117 |
| rs1367117 | |
| pharmgkb | rs1367117 |
| gwascentral | rs1367117 |
| openSNP | rs1367117 |
| 23andMe | rs1367117 |
| SNPshot | rs1367117 |
| SNPdbe | rs1367117 |
| MSV3d | rs1367117 |
| GWAS Ctlg | rs1367117 |
| GMAF | 0.2052 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs1367117 (C711T/711C>T) is a SNP within APOB (Apolipoprotein B).
[PMID 19888660
] associated with apoB levels
| GWAS snp | |
|---|---|
| PMID | [PMID 20686565]
|
| Trait | |
| Title | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Risk Allele | A |
| P-val | 0 |
| Odds Ratio | 4.1600 None |
[PMID 16642433] Polymorphism in maternal LRP8 gene is associated with fetal growth.
[PMID 18078817] Multiple genetic determinants of plasma lipid levels in Caribbean Hispanics.
[PMID 18296645] Polymorphisms of genes in the lipid metabolism pathway and risk of biliary tract cancers and stones: a population-based case-control study in Shanghai, China.
[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.
[PMID 20832063] Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.
[PMID 23298194] Epistatic study reveals two genetic interactions in blood pressure regulation
| GWAS snp | |
|---|---|
| PMID | [PMID 24097068]
|
| Trait | Cholesterol, total |
| Title | Discovery and refinement of loci associated with lipid levels. |
| Risk Allele | A |
| P-val | 3E-139 |
| Odds Ratio | .10 [NR] unit increase |
| ClinVar | |
|---|---|
| Risk | rs1367117(A;A) |
| Alt | rs1367117(A;A) |
| Reference | Rs1367117(G;G) |
| Significance | Other |
| Disease | not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Reversed | 0 |
| HGVS | NC_000002.11:g.21263900G>A |
| CLNSRC | Instituto Nacional de Saúde Doutor Ricardo Jorge |
| CLNACC | RCV000116386.4, RCV000256320.2, RCV000324495.1, |
| GWAS snp | |
|---|---|
| PMID | [PMID 19936222]
|
| Trait | Lipid metabolism phenotypes |
| Title | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Risk Allele | |
| P-val | 2E-17 |
| Odds Ratio | 3.92 [NR] unit increase |
[PMID 26451733] Parent-of-Origin Effects of the APOB Gene on Adiposity in Young Adults
