rs730882089
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Familial Hypercholesterolemia |
| (C;G) | 4 | Dominant mutation associated with Familial Hypercholesterolemia |
| (G;G) | 0 | common/normal |
| Make rs730882089(C;C) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11107401 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730882089 |
| dbSNP (classic) | rs730882089 |
| ClinGen | rs730882089 |
| ebi | rs730882089 |
| HLI | rs730882089 |
| Exac | rs730882089 |
| Gnomad | rs730882089 |
| Varsome | rs730882089 |
| LitVar | rs730882089 |
| Map | rs730882089 |
| PheGenI | rs730882089 |
| Biobank | rs730882089 |
| 1000 genomes | rs730882089 |
| hgdp | rs730882089 |
| ensembl | rs730882089 |
| geneview | rs730882089 |
| scholar | rs730882089 |
| rs730882089 | |
| pharmgkb | rs730882089 |
| gwascentral | rs730882089 |
| openSNP | rs730882089 |
| 23andMe | rs730882089 |
| SNPshot | rs730882089 |
| SNPdbe | rs730882089 |
| MSV3d | rs730882089 |
| GWAS Ctlg | rs730882089 |
| Max Magnitude | 5 |
aka c.827G>C (p.Cys276Ser)
This variant in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants.[PMID 27050191
]
| ClinVar | |
|---|---|
| Risk | rs730882089(A;A) rs730882089(C;C) |
| Alt | rs730882089(A;A) rs730882089(C;C) |
| Reference | Rs730882089(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11218077G>A; NC_000019.9:g.11218077G>C |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000237878.1, RCV000161967.1, |
