rs120074111
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs120074111(A;A) |
| Make rs120074111(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 44948822 |
| Gene | APOC2, APOC4-APOC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074111 |
| dbSNP (classic) | rs120074111 |
| ClinGen | rs120074111 |
| ebi | rs120074111 |
| HLI | rs120074111 |
| Exac | rs120074111 |
| Gnomad | rs120074111 |
| Varsome | rs120074111 |
| LitVar | rs120074111 |
| Map | rs120074111 |
| PheGenI | rs120074111 |
| Biobank | rs120074111 |
| 1000 genomes | rs120074111 |
| hgdp | rs120074111 |
| ensembl | rs120074111 |
| geneview | rs120074111 |
| scholar | rs120074111 |
| rs120074111 | |
| pharmgkb | rs120074111 |
| gwascentral | rs120074111 |
| openSNP | rs120074111 |
| 23andMe | rs120074111 |
| SNPshot | rs120074111 |
| SNPdbe | rs120074111 |
| MSV3d | rs120074111 |
| GWAS Ctlg | rs120074111 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs120074111(A;A) rs120074111(G;G) rs120074111(T;T) |
| Alt | rs120074111(A;A) rs120074111(G;G) rs120074111(T;T) |
| Reference | Rs120074111(C;C) |
| Significance | Pathogenic |
| Disease | APOLIPOPROTEIN C-II (PADOVA) Apolipoprotein C2 deficiency APOLIPOPROTEIN C-II (BARI) |
| Variation | info |
| Gene | APOC2 APOC4-APOC2 |
| CLNDBN | APOLIPOPROTEIN C-II (PADOVA) Apolipoprotein C2 deficiency APOLIPOPROTEIN C-II (BARI) |
| Reversed | 0 |
| HGVS | NC_000019.9:g.45452079C>A; NC_000019.9:g.45452079C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002683.2, RCV000002684.2, RCV000002695.2, RCV000002696.2, |
