rs1042034
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (T;T) | 0 |
| Make rs1042034(A;A) |
| Make rs1042034(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 21002409 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1042034 |
| dbSNP (classic) | rs1042034 |
| ClinGen | rs1042034 |
| ebi | rs1042034 |
| HLI | rs1042034 |
| Exac | rs1042034 |
| Gnomad | rs1042034 |
| Varsome | rs1042034 |
| LitVar | rs1042034 |
| Map | rs1042034 |
| PheGenI | rs1042034 |
| Biobank | rs1042034 |
| 1000 genomes | rs1042034 |
| hgdp | rs1042034 |
| ensembl | rs1042034 |
| geneview | rs1042034 |
| scholar | rs1042034 |
| rs1042034 | |
| pharmgkb | rs1042034 |
| gwascentral | rs1042034 |
| openSNP | rs1042034 |
| 23andMe | rs1042034 |
| SNPshot | rs1042034 |
| SNPdbe | rs1042034 |
| MSV3d | rs1042034 |
| GWAS Ctlg | rs1042034 |
| GMAF | 0.3384 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20686565 |
| Trait | |
| Title | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Risk Allele | C |
| P-val | 1E-30 |
| Odds Ratio | 0.9000 None |
[PMID 19503741
] Coding variant Met72Thr in the PEDF gene and risk of neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
[PMID 19753309
] SOD2 gene polymorphisms in neovascular age-related macular degeneration and polypoidal choroidal vasculopathy.
[PMID 23482652
] Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol
[PMID 23320904
] The role of lipid-related genes, aging-related processes, and environment in healthspan.
| ClinVar | |
|---|---|
| Risk | rs1042034(A;A) |
| Alt | rs1042034(A;A) |
| Reference | Rs1042034(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.21225281C>T |
| CLNSRC | Instituto Nacional de Saúde Doutor Ricardo Jorge |
| CLNACC | RCV000116382.4, RCV000256262.2, RCV000284555.1, |
