rs121918392
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs121918392(A;A) |
| Make rs121918392(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 44907777 |
| Gene | APOE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918392 |
| dbSNP (classic) | rs121918392 |
| ClinGen | rs121918392 |
| ebi | rs121918392 |
| HLI | rs121918392 |
| Exac | rs121918392 |
| Gnomad | rs121918392 |
| Varsome | rs121918392 |
| LitVar | rs121918392 |
| Map | rs121918392 |
| PheGenI | rs121918392 |
| Biobank | rs121918392 |
| 1000 genomes | rs121918392 |
| hgdp | rs121918392 |
| ensembl | rs121918392 |
| geneview | rs121918392 |
| scholar | rs121918392 |
| rs121918392 | |
| pharmgkb | rs121918392 |
| gwascentral | rs121918392 |
| openSNP | rs121918392 |
| 23andMe | rs121918392 |
| SNPshot | rs121918392 |
| SNPdbe | rs121918392 |
| MSV3d | rs121918392 |
| GWAS Ctlg | rs121918392 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs121918392(A;A) |
| Alt | rs121918392(A;A) |
| Reference | Rs121918392(G;G) |
| Significance | Pathogenic |
| Disease | HYPERLIPOPROTEINEMIA III AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 Hypercholesterolemia and hypertriglyceridemia |
| Variation | info |
| Gene | APOE |
| CLNDBN | HYPERLIPOPROTEINEMIA III AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5 Hypercholesterolemia and hypertriglyceridemia, type III |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45411034G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019429.28, RCV000019453.28, |
