rs6050
| Orientation | minus |
| Stabilized | minus |
| Make rs6050(A;A) |
| Make rs6050(A;G) |
| Make rs6050(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 154586438 |
| Gene | FGA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6050 |
| dbSNP (classic) | rs6050 |
| ClinGen | rs6050 |
| ebi | rs6050 |
| HLI | rs6050 |
| Exac | rs6050 |
| Gnomad | rs6050 |
| Varsome | rs6050 |
| LitVar | rs6050 |
| Map | rs6050 |
| PheGenI | rs6050 |
| Biobank | rs6050 |
| 1000 genomes | rs6050 |
| hgdp | rs6050 |
| ensembl | rs6050 |
| geneview | rs6050 |
| scholar | rs6050 |
| rs6050 | |
| pharmgkb | rs6050 |
| gwascentral | rs6050 |
| openSNP | rs6050 |
| 23andMe | rs6050 |
| SNPshot | rs6050 |
| SNPdbe | rs6050 |
| MSV3d | rs6050 |
| GWAS Ctlg | rs6050 |
| GMAF | 0.3292 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 21757653 ]
|
| Trait | |
| Title | Association of {gamma}' Fibrinogen With Cardiovascular Disease. |
| Risk Allele | C |
| P-val | 9E-90 |
| Odds Ratio | 0.2600 [0.23-0.29] g/L decrease |
Also known as alpha-Fibrinogen Thr312Ala where G:G genotype is potentially at higher risk of CTEPH (chronic thromboembolic pulmonary hypertension) according to the following paper:
[PMID 23894515] Fibrinogen Aα Thr312Ala polymorphism specifically contributes to chronic thromboembolic pulmonary hypertension by increasing fibrin resistance.
[PMID 22386478] Fibrinogen polymorphisms associated with sporadic cerebral hemorrhage in a Chinese population
[PMID 22642105] [Polymorphic variants of genes encoding interleukin-6 and fibrinogen, the risk of ischemic stroke and fibrinogen levels]
| ClinVar | |
|---|---|
| Risk | rs6050(G;G) rs6050(T;T) |
| Alt | rs6050(G;G) rs6050(T;T) |
| Reference | rs6050(A;A) |
| Significance | Other |
| Disease | Venous thromboembolism not specified Afibrinogenemia Familial visceral amyloidosis |
| Variation | info |
| Gene | FGA |
| CLNDBN | Venous thromboembolism, susceptibility to not specified Afibrinogenemia, congenital Familial visceral amyloidosis, Ostertag type |
| Reversed | 1 |
| HGVS | NC_000004.11:g.155507590T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000017882.4, RCV000246757.1, RCV000338448.1, RCV000405212.1, |
[PMID 16846490] Lemierre's syndrome and genetic polymorphisms: a case report.
[PMID 19552680] Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.
[PMID 20059469] Interaction between fibrinogen and IL-6 genetic variants and associations with cardiovascular disease risk in the Cardiovascular Health Study.
[PMID 20416077] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
[PMID 22267327] Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation.
[PMID 22273812] Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey.
[PMID 24908450] A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups
[PMID 23944290] Association between two functional fibrinogen-related polymorphisms and ischemic stroke: a case-control study
