rs886039829
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;A) | 3.1 | Hypercholesterolemia, Type B; heterozygote |
| (A;A) | 0 | common in clinvar |
| Make rs886039829(-;-) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 2 |
| Position | 21002264 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886039829 |
| dbSNP (classic) | rs886039829 |
| ClinGen | rs886039829 |
| ebi | rs886039829 |
| HLI | rs886039829 |
| Exac | rs886039829 |
| Gnomad | rs886039829 |
| Varsome | rs886039829 |
| LitVar | rs886039829 |
| Map | rs886039829 |
| PheGenI | rs886039829 |
| Biobank | rs886039829 |
| 1000 genomes | rs886039829 |
| hgdp | rs886039829 |
| ensembl | rs886039829 |
| geneview | rs886039829 |
| scholar | rs886039829 |
| rs886039829 | |
| pharmgkb | rs886039829 |
| gwascentral | rs886039829 |
| openSNP | rs886039829 |
| 23andMe | rs886039829 |
| SNPshot | rs886039829 |
| SNPdbe | rs886039829 |
| MSV3d | rs886039829 |
| GWAS Ctlg | rs886039829 |
| Max Magnitude | 3.1 |
aka c.13158delA
| ClinVar | |
|---|---|
| Risk | rs886039829(-;-) |
| Alt | rs886039829(-;-) |
| Reference | Rs886039829(A;A) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.21225136delT |
| CLNSRC | Instituto Nacional de Saúde Doutor Ricardo Jorge |
| CLNACC | RCV000256308.1, |
