rs551747280
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Familial Hypercholesterolemia |
| Make rs551747280(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11100237 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs551747280 |
| dbSNP (classic) | rs551747280 |
| ClinGen | rs551747280 |
| ebi | rs551747280 |
| HLI | rs551747280 |
| Exac | rs551747280 |
| Gnomad | rs551747280 |
| Varsome | rs551747280 |
| LitVar | rs551747280 |
| Map | rs551747280 |
| PheGenI | rs551747280 |
| Biobank | rs551747280 |
| 1000 genomes | rs551747280 |
| hgdp | rs551747280 |
| ensembl | rs551747280 |
| geneview | rs551747280 |
| scholar | rs551747280 |
| rs551747280 | |
| pharmgkb | rs551747280 |
| gwascentral | rs551747280 |
| openSNP | rs551747280 |
| 23andMe | rs551747280 |
| SNPshot | rs551747280 |
| SNPdbe | rs551747280 |
| MSV3d | rs551747280 |
| GWAS Ctlg | rs551747280 |
| Max Magnitude | 5 |
aka c.82G>T (p.Glu28Ter or E28X) and also c.82G>A (p.Glu28Lys or E28K), both of which are pathogenic or likely pathogenic in ClinVar for familial hypercholesterolemia; based on ExAC/gnomAD data, this is one of the most frequent FH mutations in both Finnish and Latino populations.
| ClinVar | |
|---|---|
| Risk | rs551747280(A;A) rs551747280(T;T) |
| Alt | rs551747280(A;A) rs551747280(T;T) |
| Reference | Rs551747280(G;G) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11210913G>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000211620.2, |
