rs137943601
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 5 | Familial Hypercholesterolemia |
| (C;G) | 5 | Familial Hypercholesterolemia |
| (G;G) | 0 | common in clinvar |
| Make rs137943601(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11113313 |
| Gene | LDLR, MIR6886 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137943601 |
| dbSNP (classic) | rs137943601 |
| ClinGen | rs137943601 |
| ebi | rs137943601 |
| HLI | rs137943601 |
| Exac | rs137943601 |
| Gnomad | rs137943601 |
| Varsome | rs137943601 |
| LitVar | rs137943601 |
| Map | rs137943601 |
| PheGenI | rs137943601 |
| Biobank | rs137943601 |
| 1000 genomes | rs137943601 |
| hgdp | rs137943601 |
| ensembl | rs137943601 |
| geneview | rs137943601 |
| scholar | rs137943601 |
| rs137943601 | |
| pharmgkb | rs137943601 |
| gwascentral | rs137943601 |
| openSNP | rs137943601 |
| 23andMe | rs137943601 |
| SNPshot | rs137943601 |
| SNPdbe | rs137943601 |
| MSV3d | rs137943601 |
| GWAS Ctlg | rs137943601 |
| Max Magnitude | 5 |
aka c.1222G>A, p.Glu408Lys or E408K
reported in ClinVar as both pathogenic - and - likely benign - for familial hypercholesterolemia and therefore increased risk for coronary artery disease, so, interpret with caution
| ClinVar | |
|---|---|
| Risk | rs137943601(A;A) rs137943601(C;C) |
| Alt | rs137943601(A;A) rs137943601(C;C) |
| Reference | Rs137943601(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia Hypercholesterolaemia not provided |
| Variation | info |
| Gene | LDLR MIR6886 |
| CLNDBN | Familial hypercholesterolemia Hypercholesterolaemia not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11223989G>A; NC_000019.9:g.11223989G>C |
| CLNSRC | LDLR @ LOVD UniProtKB (protein) |
| CLNACC | RCV000030125.7, RCV000148564.1, RCV000413896.1, |
[PMID 122051] (1-14C) acetate assimilation by obligate methylotrophs, Pseudomonas methanica and Methylosinus trichosporium.
[PMID 3931803
] Treatment of homozygous familial hypercholesterolaemia: an informative sibship.
[PMID 17094996] Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
[PMID 17539906] Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
[PMID 18700895] Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
[PMID 19026292] Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.
