rs144172724
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 rs144172724(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 19 |
| Position | 11102774 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144172724 |
| dbSNP (classic) | rs144172724 |
| ClinGen | rs144172724 |
| ebi | rs144172724 |
| HLI | rs144172724 |
| Exac | rs144172724 |
| Gnomad | rs144172724 |
| Varsome | rs144172724 |
| LitVar | rs144172724 |
| Map | rs144172724 |
| PheGenI | rs144172724 |
| Biobank | rs144172724 |
| 1000 genomes | rs144172724 |
| hgdp | rs144172724 |
| ensembl | rs144172724 |
| geneview | rs144172724 |
| scholar | rs144172724 |
| rs144172724 | |
| pharmgkb | rs144172724 |
| gwascentral | rs144172724 |
| openSNP | rs144172724 |
| 23andMe | rs144172724 |
| SNPshot | rs144172724 |
| SNPdbe | rs144172724 |
| MSV3d | rs144172724 |
| GWAS Ctlg | rs144172724 |
| Max Magnitude | 5 |
aka c.301G>A (p.Glu101Lys)
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 | rs144172724(A;A) rs144172724(T;T) |
| Alt | rs144172724(A;A) rs144172724(T;T) |
| Reference | Rs144172724(G;G) |
| Significance | Other |
| Disease | Hypercholesterolaemia not provided Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Hypercholesterolaemia not provided Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11213450G>A; NC_000019.9:g.11213450G>T |
| CLNSRC | LDLR @ LOVD UniProtKB (protein) |
| CLNACC | RCV000148571.1, RCV000162016.1, RCV000211583.6, RCV000238482.1, |
