rs143301836
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a hypobetalipoproteinemia mutation |
| (G;G) | 0 | common in clinvar |
| Make rs143301836(G;T) |
| Make rs143301836(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 2 |
| Position | 21037162 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs143301836 |
| dbSNP (classic) | rs143301836 |
| ClinGen | rs143301836 |
| ebi | rs143301836 |
| HLI | rs143301836 |
| Exac | rs143301836 |
| Gnomad | rs143301836 |
| Varsome | rs143301836 |
| LitVar | rs143301836 |
| Map | rs143301836 |
| PheGenI | rs143301836 |
| Biobank | rs143301836 |
| 1000 genomes | rs143301836 |
| hgdp | rs143301836 |
| ensembl | rs143301836 |
| geneview | rs143301836 |
| scholar | rs143301836 |
| rs143301836 | |
| pharmgkb | rs143301836 |
| gwascentral | rs143301836 |
| openSNP | rs143301836 |
| 23andMe | rs143301836 |
| SNPshot | rs143301836 |
| SNPdbe | rs143301836 |
| MSV3d | rs143301836 |
| GWAS Ctlg | rs143301836 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs143301836(A;A) rs143301836(T;T) |
| Alt | rs143301836(A;A) rs143301836(T;T) |
| Reference | Rs143301836(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Hypobetalipoproteinemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | Hypobetalipoproteinemia |
| Reversed | 0 |
| HGVS | NC_000002.11:g.21260034G>A |
| CLNSRC | |
| CLNACC | RCV000218762.1, |
