rs1801020
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 1 | Normal risk of developing heart disease |
| (C;T) | 1.5 | 1.31x increased risk of heart disease |
| (T;T) | 1.5 | 1.31x increased risk of heart disease |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 177409531 |
| Gene | F12, SLC34A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801020 |
| dbSNP (classic) | rs1801020 |
| ClinGen | rs1801020 |
| ebi | rs1801020 |
| HLI | rs1801020 |
| Exac | rs1801020 |
| Gnomad | rs1801020 |
| Varsome | rs1801020 |
| LitVar | rs1801020 |
| Map | rs1801020 |
| PheGenI | rs1801020 |
| Biobank | rs1801020 |
| 1000 genomes | rs1801020 |
| hgdp | rs1801020 |
| ensembl | rs1801020 |
| geneview | rs1801020 |
| scholar | rs1801020 |
| rs1801020 | |
| pharmgkb | rs1801020 |
| gwascentral | rs1801020 |
| openSNP | rs1801020 |
| 23andMe | rs1801020 |
| SNPshot | rs1801020 |
| SNPdbe | rs1801020 |
| MSV3d | rs1801020 |
| GWAS Ctlg | rs1801020 |
| GMAF | 0.4201 |
| Max Magnitude | 1.5 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Affects heart disease risk for both men and women, based on a study of two Finnish population cohorts (HR = 1.31 (1.08-1.60) for CVD, uncorrected p = 0.006 multiplicative model).[PMID 19874842
]
[PMID 21071604] A meta-analysis of publications through July 2009, totaling 4,386 cases (vs 40,089 controls) concluded that apart from a very weak association with myocardial infarction for the rs1801020 (T;T) + (C;T) compared with (C;C) genotype, (odds ratio 1.13, CI: 1.00 - 1.27), the evidence for an association between F12 -4C>T and venous thromboembolism and myocardial infarction was weak.
[PMID 19786295] Combined cis-regulator elements as important mechanism affecting FXII plasma levels
[PMID 21071604] The Factor XII -4C>T Variant and Risk of Common Thrombotic Disorders: A HuGE Review and Meta-Analysis of Evidence From Observational Studies
[PMID 18974842] Gender differences in genetic risk profiles for cardiovascular disease.
[PMID 19372376] Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
[PMID 19933701] Sequence variation and genetic evolution at the human F12 locus: mapping quantitative trait nucleotides that influence FXII plasma levels.
[PMID 20346176] The Mediterranean Sea as a barrier to gene flow: evidence from variation in and around the F7 and F12 genomic regions.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23150947] Single nucleotide polymorphisms and the risk of venous thrombosis: results from a Danish case-cohort study
| ClinVar | |
|---|---|
| Risk | Rs1801020(C;C) |
| Alt | Rs1801020(C;C) |
| Reference | Rs1801020(T;T) |
| Significance | Non-pathogenic |
| Disease | FACTOR XII POLYMORPHISM not specified Reduced factor XII activity Hereditary Angioedema |
| Variation | info |
| Gene | F12 |
| CLNDBN | FACTOR XII POLYMORPHISM not specified Reduced factor XII activity Hereditary Angioedema |
| Reversed | 1 |
| HGVS | NC_000005.9:g.176836532A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001226.3, RCV000242780.1, RCV000293630.1, RCV000346234.1, |
[PMID 26286125] Coagulation factor XII genetic variation, ex vivo thrombin generation, and stroke risk in the elderly: results from the Cardiovascular Health Study
[PMID 27656708] Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.
[PMID 29367083] Assessment of two contact activation reagents for the diagnosis of congenital factor XI deficiency.
