rs267607213
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in clinvar |
| Make rs267607213(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11100286 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267607213 |
| dbSNP (classic) | rs267607213 |
| ClinGen | rs267607213 |
| ebi | rs267607213 |
| HLI | rs267607213 |
| Exac | rs267607213 |
| Gnomad | rs267607213 |
| Varsome | rs267607213 |
| LitVar | rs267607213 |
| Map | rs267607213 |
| PheGenI | rs267607213 |
| Biobank | rs267607213 |
| 1000 genomes | rs267607213 |
| hgdp | rs267607213 |
| ensembl | rs267607213 |
| geneview | rs267607213 |
| scholar | rs267607213 |
| rs267607213 | |
| pharmgkb | rs267607213 |
| gwascentral | rs267607213 |
| openSNP | rs267607213 |
| 23andMe | rs267607213 |
| SNPshot | rs267607213 |
| SNPdbe | rs267607213 |
| MSV3d | rs267607213 |
| GWAS Ctlg | rs267607213 |
| Max Magnitude | 5 |
aka c.131G>A, p.Trp44Ter or W44X; in older literature, W23X
reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease
| ClinVar | |
|---|---|
| Risk | rs267607213(A;A) |
| Alt | rs267607213(A;A) |
| Reference | Rs267607213(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11210962G>A |
| CLNSRC | LDLR @ LOVD OMIM Allelic Variant |
| CLNACC | RCV000003939.9, |
