rs28931573
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 2 | positive for the APOA1 Milano variant |
| (T;T) | 3 | homozygous for the APOA1 Milano variant |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 116836023 |
| Gene | APOA1, APOA1-AS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28931573 |
| dbSNP (classic) | rs28931573 |
| ClinGen | rs28931573 |
| ebi | rs28931573 |
| HLI | rs28931573 |
| Exac | rs28931573 |
| Gnomad | rs28931573 |
| Varsome | rs28931573 |
| LitVar | rs28931573 |
| Map | rs28931573 |
| PheGenI | rs28931573 |
| Biobank | rs28931573 |
| 1000 genomes | rs28931573 |
| hgdp | rs28931573 |
| ensembl | rs28931573 |
| geneview | rs28931573 |
| scholar | rs28931573 |
| rs28931573 | |
| pharmgkb | rs28931573 |
| gwascentral | rs28931573 |
| openSNP | rs28931573 |
| 23andMe | rs28931573 |
| SNPshot | rs28931573 |
| SNPdbe | rs28931573 |
| MSV3d | rs28931573 |
| GWAS Ctlg | rs28931573 |
| Max Magnitude | 3 |
wikipedia has a fairly detailed article on this particular variant
| ClinVar | |
|---|---|
| Risk | Rs28931573(T;T) |
| Alt | Rs28931573(T;T) |
| Reference | Rs28931573(C;C) |
| Significance | Pathogenic |
| Disease | APOLIPOPROTEIN A-I (MILANO) |
| Variation | info |
| Gene | APOA1-AS APOA1 |
| CLNDBN | APOLIPOPROTEIN A-I (MILANO) |
| Reversed | 1 |
| HGVS | NC_000011.9:g.116706739G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019498.27, |
