rs5985
| Orientation | minus |
| Stabilized | minus |
| Make rs5985(G;G) |
| Make rs5985(G;T) |
| Make rs5985(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 6318562 |
| Gene | F13A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5985 |
| dbSNP (classic) | rs5985 |
| ClinGen | rs5985 |
| ebi | rs5985 |
| HLI | rs5985 |
| Exac | rs5985 |
| Gnomad | rs5985 |
| Varsome | rs5985 |
| LitVar | rs5985 |
| Map | rs5985 |
| PheGenI | rs5985 |
| Biobank | rs5985 |
| 1000 genomes | rs5985 |
| hgdp | rs5985 |
| ensembl | rs5985 |
| geneview | rs5985 |
| scholar | rs5985 |
| rs5985 | |
| pharmgkb | rs5985 |
| gwascentral | rs5985 |
| openSNP | rs5985 |
| 23andMe | rs5985 |
| SNPshot | rs5985 |
| SNPdbe | rs5985 |
| MSV3d | rs5985 |
| GWAS Ctlg | rs5985 |
| GMAF | 0.1566 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
Also known as Factor XIII / FXIII Val34Leu - G-to-T transition resulting in a substitution of leucine for valine at amino acid 34. T allele associated with protection from VTE according to the following paper:
[PMID 16740590] Factor XIII Val34Leu variant is protective against venous thromboembolism: a HuGE review and meta-analysis.
[PMID 21332313] Sequence variations in the FII, FV, F13A1, FGB and PAI-1 genes are associated with differences in myocardial perfusion
[PMID 21913742] Genetic predictors of response to photodynamictherapy
| ClinVar | |
|---|---|
| Risk | rs5985(A;A) rs5985(T;T) |
| Alt | rs5985(A;A) rs5985(T;T) |
| Reference | rs5985(G;G) |
| Significance | Other |
| Disease | Myocardial infarction Venous thrombosis not specified Factor xiii |
| Variation | info |
| Gene | F13A1 |
| CLNDBN | Myocardial infarction, protection against Venous thrombosis, protection against not specified Factor xiii, a subunit, deficiency of |
| Reversed | 1 |
| HGVS | NC_000006.11:g.6318795C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000017996.3, RCV000017997.3, RCV000248039.1, RCV000374698.1, |
[PMID 16525568] Epistatic and pleiotropic effects of polymorphisms in the fibrinogen and coagulation factor XIII genes on plasma fibrinogen concentration, fibrin gel structure and risk of myocardial infarction.
[PMID 16681647
] Sickle cell leg ulcers: associations with haemolysis and SNPs in Klotho, TEK and genes of the TGF-beta/BMP pathway.
[PMID 17107626] Comparison of PrASE and Pyrosequencing for SNP Genotyping.
[PMID 17241179] The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration.
[PMID 20031584] Genetics of atherothrombotic and lacunar stroke.
[PMID 20532202] Use of genome-wide expression data to mine the "Gray Zone" of GWA studies leads to novel candidate obesity genes.
[PMID 20887247] Pharmacogenetic aspects in therapeutic management of subfoveal choroidal neovascularisation: role of factor XIII-A 185 T-allele.
[PMID 21422408] Clotting factor gene polymorphisms and colorectal cancer risk.
[PMID 22267327] Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation.
[PMID 23381943] Ischemic stroke is associated with the ABO locus: The EuroCLOT study
[PMID 22909824] Activity and levels of factor XIII in a Venezuelan admixed population: association with rs5985 (Val35Leu) and STR F13A01 polymorphisms.
[PMID 25862345] Genetic association between FXIII and β-fibrinogen genes and women with recurrent spontaneous abortion: a meta- analysis
