rs587776852
From SNPedia
| Orientation | plus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 3 | Carrier of a hypobetalipoproteinemia mutation |
| (C;C) | 0 | common in clinvar |
| (CA;CA) | 0 | common in clinvar |
| (G;G) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs587776852(-;-) |
| Make rs587776852(-;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 21005156 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs587776852 |
| dbSNP (classic) | rs587776852 |
| ClinGen | rs587776852 |
| ebi | rs587776852 |
| HLI | rs587776852 |
| Exac | rs587776852 |
| Gnomad | rs587776852 |
| Varsome | rs587776852 |
| LitVar | rs587776852 |
| Map | rs587776852 |
| PheGenI | rs587776852 |
| Biobank | rs587776852 |
| 1000 genomes | rs587776852 |
| hgdp | rs587776852 |
| ensembl | rs587776852 |
| geneview | rs587776852 |
| scholar | rs587776852 |
| rs587776852 | |
| pharmgkb | rs587776852 |
| gwascentral | rs587776852 |
| openSNP | rs587776852 |
| 23andMe | rs587776852 |
| SNPshot | rs587776852 |
| SNPdbe | rs587776852 |
| MSV3d | rs587776852 |
| GWAS Ctlg | rs587776852 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | Rs587776852(G;G) rs587776852(-;-) |
| Alt | Rs587776852(G;G) rs587776852(-;-) |
| Reference | Rs587776852(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypobetalipoproteinemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | Familial hypobetalipoproteinemia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.21228028delG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019485.26, |
