rs875989940
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;T) | 5 | Familial Hypercholesterolemia |
| (T;T) | 0 | common in clinvar |
| Make rs875989940(-;-) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 19 |
| Position | 11123304 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs875989940 |
| dbSNP (classic) | rs875989940 |
| ClinGen | rs875989940 |
| ebi | rs875989940 |
| HLI | rs875989940 |
| Exac | rs875989940 |
| Gnomad | rs875989940 |
| Varsome | rs875989940 |
| LitVar | rs875989940 |
| Map | rs875989940 |
| PheGenI | rs875989940 |
| Biobank | rs875989940 |
| 1000 genomes | rs875989940 |
| hgdp | rs875989940 |
| ensembl | rs875989940 |
| geneview | rs875989940 |
| scholar | rs875989940 |
| rs875989940 | |
| pharmgkb | rs875989940 |
| gwascentral | rs875989940 |
| openSNP | rs875989940 |
| 23andMe | rs875989940 |
| SNPshot | rs875989940 |
| SNPdbe | rs875989940 |
| MSV3d | rs875989940 |
| GWAS Ctlg | rs875989940 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | rs875989940(-;-) |
| Alt | rs875989940(-;-) |
| Reference | Rs875989940(T;T) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia not provided |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11233980delT |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000211650.2, RCV000493493.1, |
