rs12713559
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | carrier of possible familial hypercholesterolemia mutation |
| Make rs12713559(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 21006196 |
| Gene | APOB |
| is a | snp |
| is | mentioned by |
| dbSNP | rs12713559 |
| dbSNP (classic) | rs12713559 |
| ClinGen | rs12713559 |
| ebi | rs12713559 |
| HLI | rs12713559 |
| Exac | rs12713559 |
| Gnomad | rs12713559 |
| Varsome | rs12713559 |
| LitVar | rs12713559 |
| Map | rs12713559 |
| PheGenI | rs12713559 |
| Biobank | rs12713559 |
| 1000 genomes | rs12713559 |
| hgdp | rs12713559 |
| ensembl | rs12713559 |
| geneview | rs12713559 |
| scholar | rs12713559 |
| rs12713559 | |
| pharmgkb | rs12713559 |
| gwascentral | rs12713559 |
| openSNP | rs12713559 |
| 23andMe | rs12713559 |
| SNPshot | rs12713559 |
| SNPdbe | rs12713559 |
| MSV3d | rs12713559 |
| GWAS Ctlg | rs12713559 |
| Merged from | Rs17241062 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
rs12713559, also known as c.10672C>T, p.Arg3558Cys, R3558C and R3531C, is a SNP in the APOB apolipoprotein B gene.
The risk allele is A according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B, and where they note that the evidence is unclear about whether this mutation is causative on its own. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs12713559(T).
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs12713559(T;T) |
| Alt | rs12713559(T;T) |
| Reference | Rs12713559(C;C) |
| Significance | Pathogenic |
| Disease | Familial hypercholesterolemia not specified Hypercholesterolemia Hypobetalipoproteinemia |
| Variation | info |
| Gene | APOB |
| CLNDBN | Familial hypercholesterolemia not specified Hypercholesterolemia, autosomal dominant, type B Hypobetalipoproteinemia, familial, 1 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.21229068G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019486.27, RCV000219069.1, RCV000226811.2, RCV000412657.1, |
