rs193922570
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Familial Hypercholesterolemia |
| Make rs193922570(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11120495 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922570 |
| dbSNP (classic) | rs193922570 |
| ClinGen | rs193922570 |
| ebi | rs193922570 |
| HLI | rs193922570 |
| Exac | rs193922570 |
| Gnomad | rs193922570 |
| Varsome | rs193922570 |
| LitVar | rs193922570 |
| Map | rs193922570 |
| PheGenI | rs193922570 |
| Biobank | rs193922570 |
| 1000 genomes | rs193922570 |
| hgdp | rs193922570 |
| ensembl | rs193922570 |
| geneview | rs193922570 |
| scholar | rs193922570 |
| rs193922570 | |
| pharmgkb | rs193922570 |
| gwascentral | rs193922570 |
| openSNP | rs193922570 |
| 23andMe | rs193922570 |
| SNPshot | rs193922570 |
| SNPdbe | rs193922570 |
| MSV3d | rs193922570 |
| GWAS Ctlg | rs193922570 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs193922570(C;C) rs193922570(T;T) |
| Alt | rs193922570(C;C) rs193922570(T;T) |
| Reference | Rs193922570(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11231171G>C; NC_000019.9:g.11231171G>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000030132.2, RCV000237628.1, |
[PMID 18325082] Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
[PMID 20506408] Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
[PMID 21382890] Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
[PMID 21642693] Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
