rs1042031
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | ||
| (C;C) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs1042031(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 21002881 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042031 |
| dbSNP (classic) | rs1042031 |
| ClinGen | rs1042031 |
| ebi | rs1042031 |
| HLI | rs1042031 |
| Exac | rs1042031 |
| Gnomad | rs1042031 |
| Varsome | rs1042031 |
| LitVar | rs1042031 |
| Map | rs1042031 |
| PheGenI | rs1042031 |
| Biobank | rs1042031 |
| 1000 genomes | rs1042031 |
| hgdp | rs1042031 |
| ensembl | rs1042031 |
| geneview | rs1042031 |
| scholar | rs1042031 |
| rs1042031 | |
| pharmgkb | rs1042031 |
| gwascentral | rs1042031 |
| openSNP | rs1042031 |
| 23andMe | rs1042031 |
| SNPshot | rs1042031 |
| SNPdbe | rs1042031 |
| MSV3d | rs1042031 |
| GWAS Ctlg | rs1042031 |
| GMAF | 0.1529 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20724655
] ApoB genetic variants modify the response to fenofibrate: a GOLDN study
[PMID 21855833] Replication of Genetic Association Studies in Aortic Stenosis in Adults
[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 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 20018037] Mendelian randomization in family data.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 23444115] Associations of polymorphisms of rs693 and rs1042031 in apolipoprotein B gene with risk of breast cancer in Chinese.
[PMID 24903972] Genetic predisposition to calcific aortic stenosis and mitral annular calcification
| ClinVar | |
|---|---|
| Risk | Rs1042031(A;A) rs1042031(T;T) |
| Alt | Rs1042031(A;A) rs1042031(T;T) |
| Reference | Rs1042031(G;G) |
| Significance | Other |
| Disease | not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | not specified Familial hypercholesterolemia Familial hypobetalipoproteinemia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.21225753C>T |
| CLNSRC | Instituto Nacional de Saúde Doutor Ricardo Jorge |
| CLNACC | RCV000116381.4, RCV000256314.2, RCV000268700.1, |
[PMID 30996113] Association between genetic polymorphisms and osteonecrosis in steroid treatment populations: a detailed stratified and dose-response meta-analysis.
[PMID 32647408] Association of Common Single Nucleotide Polymorphisms of Candidate Genes with Gallstone Disease: A Meta-Analysis.
