rs5122
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs5122(A;A) |
| Make rs5122(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 44948823 |
| Gene | APOC2, APOC4-APOC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5122 |
| dbSNP (classic) | rs5122 |
| ClinGen | rs5122 |
| ebi | rs5122 |
| HLI | rs5122 |
| Exac | rs5122 |
| Gnomad | rs5122 |
| Varsome | rs5122 |
| LitVar | rs5122 |
| Map | rs5122 |
| PheGenI | rs5122 |
| Biobank | rs5122 |
| 1000 genomes | rs5122 |
| hgdp | rs5122 |
| ensembl | rs5122 |
| geneview | rs5122 |
| scholar | rs5122 |
| rs5122 | |
| pharmgkb | rs5122 |
| gwascentral | rs5122 |
| openSNP | rs5122 |
| 23andMe | rs5122 |
| SNPshot | rs5122 |
| SNPdbe | rs5122 |
| MSV3d | rs5122 |
| GWAS Ctlg | rs5122 |
| GMAF | 0.001837 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs5122(A;A) |
| Alt | rs5122(A;A) |
| Reference | Rs5122(G;G) |
| Significance | Pathogenic |
| Disease | APOLIPOPROTEIN C-II (SAN FRANCISCO) |
| Variation | info |
| Gene | APOC2 APOC4-APOC2 |
| CLNDBN | APOLIPOPROTEIN C-II (SAN FRANCISCO) |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45452080G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002698.2, |
