rs146200173
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 5 | Familial Hypercholesterolemia |
| Make rs146200173(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 11113292 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs146200173 |
| dbSNP (classic) | rs146200173 |
| ClinGen | rs146200173 |
| ebi | rs146200173 |
| HLI | rs146200173 |
| Exac | rs146200173 |
| Gnomad | rs146200173 |
| Varsome | rs146200173 |
| LitVar | rs146200173 |
| Map | rs146200173 |
| PheGenI | rs146200173 |
| Biobank | rs146200173 |
| 1000 genomes | rs146200173 |
| hgdp | rs146200173 |
| ensembl | rs146200173 |
| geneview | rs146200173 |
| scholar | rs146200173 |
| rs146200173 | |
| pharmgkb | rs146200173 |
| gwascentral | rs146200173 |
| openSNP | rs146200173 |
| 23andMe | rs146200173 |
| SNPshot | rs146200173 |
| SNPdbe | rs146200173 |
| MSV3d | rs146200173 |
| GWAS Ctlg | rs146200173 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs146200173(G;G) |
| Alt | rs146200173(G;G) |
| Reference | Rs146200173(C;C) |
| Significance | Other |
| Disease | Hypercholesterolaemia Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | Hypercholesterolaemia Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11223968C>G |
| CLNSRC | LDLR @ LOVD UniProtKB (protein) |
| CLNACC | RCV000148572.1, RCV000238417.1, RCV000255176.1, |
