rs773328511
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial Hypercholesterolemia |
| (C;C) | 0 | common in clinvar |
| Make rs773328511(A;A) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11106680 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773328511 |
| dbSNP (classic) | rs773328511 |
| ClinGen | rs773328511 |
| ebi | rs773328511 |
| HLI | rs773328511 |
| Exac | rs773328511 |
| Gnomad | rs773328511 |
| Varsome | rs773328511 |
| LitVar | rs773328511 |
| Map | rs773328511 |
| PheGenI | rs773328511 |
| Biobank | rs773328511 |
| 1000 genomes | rs773328511 |
| hgdp | rs773328511 |
| ensembl | rs773328511 |
| geneview | rs773328511 |
| scholar | rs773328511 |
| rs773328511 | |
| pharmgkb | rs773328511 |
| gwascentral | rs773328511 |
| openSNP | rs773328511 |
| 23andMe | rs773328511 |
| SNPshot | rs773328511 |
| SNPdbe | rs773328511 |
| MSV3d | rs773328511 |
| GWAS Ctlg | rs773328511 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs773328511(A;A) rs773328511(T;T) |
| Alt | rs773328511(A;A) rs773328511(T;T) |
| Reference | Rs773328511(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11217356C>A; NC_000019.9:g.11217356C>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000238441.1, RCV000237636.1, |
