rs193922566
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 rs193922566(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11110766 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922566 |
| dbSNP (classic) | rs193922566 |
| ClinGen | rs193922566 |
| ebi | rs193922566 |
| HLI | rs193922566 |
| Exac | rs193922566 |
| Gnomad | rs193922566 |
| Varsome | rs193922566 |
| LitVar | rs193922566 |
| Map | rs193922566 |
| PheGenI | rs193922566 |
| Biobank | rs193922566 |
| 1000 genomes | rs193922566 |
| hgdp | rs193922566 |
| ensembl | rs193922566 |
| geneview | rs193922566 |
| scholar | rs193922566 |
| rs193922566 | |
| pharmgkb | rs193922566 |
| gwascentral | rs193922566 |
| openSNP | rs193922566 |
| 23andMe | rs193922566 |
| SNPshot | rs193922566 |
| SNPdbe | rs193922566 |
| MSV3d | rs193922566 |
| GWAS Ctlg | rs193922566 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs193922566(A;A) rs193922566(T;T) |
| Alt | rs193922566(A;A) rs193922566(T;T) |
| Reference | Rs193922566(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11221442G>A; NC_000019.9:g.11221442G>T |
| CLNSRC | LDLR @ LOVD UniProtKB (protein) |
| CLNACC | RCV000030122.2, RCV000413322.1, RCV000237312.1, |
[PMID 19026292] Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
