rs121908031
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 5 | Familial Hypercholesterolemia |
| (C;C) | 0 | common in complete genomics |
| (C;G) | 5 | Familial Hypercholesterolemia |
| Make rs121908031(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11120425 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908031 |
| dbSNP (classic) | rs121908031 |
| ClinGen | rs121908031 |
| ebi | rs121908031 |
| HLI | rs121908031 |
| Exac | rs121908031 |
| Gnomad | rs121908031 |
| Varsome | rs121908031 |
| LitVar | rs121908031 |
| Map | rs121908031 |
| PheGenI | rs121908031 |
| Biobank | rs121908031 |
| 1000 genomes | rs121908031 |
| hgdp | rs121908031 |
| ensembl | rs121908031 |
| geneview | rs121908031 |
| scholar | rs121908031 |
| rs121908031 | |
| pharmgkb | rs121908031 |
| gwascentral | rs121908031 |
| openSNP | rs121908031 |
| 23andMe | rs121908031 |
| SNPshot | rs121908031 |
| SNPdbe | rs121908031 |
| MSV3d | rs121908031 |
| GWAS Ctlg | rs121908031 |
| Max Magnitude | 5 |
aka c.2043C>A, p.Cys681Ter or C681X; also known as FH Lebanese
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
| ClinVar | |
|---|---|
| Risk | rs121908031(A;A) rs121908031(G;G) |
| Alt | rs121908031(A;A) rs121908031(G;G) |
| Reference | Rs121908031(C;C) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11231101C>A; NC_000019.9:g.11231101C>G |
| CLNSRC | LDLR @ LOVD OMIM Allelic Variant |
| CLNACC | RCV000003887.9, RCV000481771.1, RCV000238523.1, |
