rs5742904
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 4 | Hypercholesterolemia, Type B; homozygote |
| (A;G) | 3.1 | Hypercholesterolemia, Type B; heterozygote |
| (G;G) | 0 | normal |
| (G;T) | 5 | Familial Hypercholesterolemia |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 21006288 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5742904 |
| dbSNP (classic) | rs5742904 |
| ClinGen | rs5742904 |
| ebi | rs5742904 |
| HLI | rs5742904 |
| Exac | rs5742904 |
| Gnomad | rs5742904 |
| Varsome | rs5742904 |
| LitVar | rs5742904 |
| Map | rs5742904 |
| PheGenI | rs5742904 |
| Biobank | rs5742904 |
| 1000 genomes | rs5742904 |
| hgdp | rs5742904 |
| ensembl | rs5742904 |
| geneview | rs5742904 |
| scholar | rs5742904 |
| rs5742904 | |
| pharmgkb | rs5742904 |
| gwascentral | rs5742904 |
| openSNP | rs5742904 |
| 23andMe | rs5742904 |
| SNPshot | rs5742904 |
| SNPdbe | rs5742904 |
| MSV3d | rs5742904 |
| GWAS Ctlg | rs5742904 |
| Max Magnitude | 5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs5742904, also known as c.10580G>A, p.Arg3527Gln, R3527Q or R3500Q, is a SNP in the APOB apolipoprotein B gene. Note an alternative allele, c.10580G>T, which is also considered pathogenic.
The risk allele is T according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs5742904(A). This variant is considered to the most frequent APOB gene FH mutation in Caucasians.
For a clinical case discussion of this SNP, see 'Clinical Case 2' within Box 1 of [PMID 19602640
].
| OMIM | 107730 |
| Desc | HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100 |
| Variant | 0009 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | Rs5742904(A;A) |
| Alt | Rs5742904(A;A) |
| Reference | Rs5742904(G;G) |
| Significance | Other |
| Disease | Familial hypercholesterolemia not provided Familial hypobetalipoproteinemia Hypercholesterolemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | Familial hypercholesterolemia not provided Familial hypobetalipoproteinemia Hypercholesterolemia, autosomal dominant, type B |
| Reversed | 1 |
| HGVS | NC_000002.11:g.21229160C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019479.32, RCV000254882.2, RCV000284412.1, RCV000412515.1, |
[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.
