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G20210A prothrombin mutation

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The Prothrombin G20210A mutation, also known as Factor II mutation, is a hereditary trait that heightens the likelihood of developing anomalous blood clots in the veins (deep vein thrombosis or DVT) and lungs (pulmonary embolism or PE). This occurs due to an excess production of the Factor II (prothrombin) protein, which is responsible for clot formation. Blood clots can lead to severe complications by obstructing blood flow and depriving cells of oxygen.

If your Factor II gene undergoes a genetic mutation, it can result in an overproduction of prothrombin (coagulation factor II), which increases your susceptibility to blood clot formation compared to individuals with an unaltered prothrombin gene.

There are other factors that can increase your risk of developing blood clots, such as:

Tobacco consumption.

Undergoing a surgical procedure.

Being obese.

Pregnancy.

Using contraceptive pills.

Aging.

Undergoing hormone therapy.

Staying in the hospital for a few days.

Wearing a leg cast.

Embarking on an extended flight or an exceedingly lengthy road journey.

The prothrombin (factor two) protein, which aids in blood clotting, is produced by every person. Nevertheless, some individuals possess a genetic mutation in the prothrombin gene (known as prothrombin G20210A or the factor II (two) mutation) that results in an inherited thrombophilia (a clotting disorder) known as prothrombin G20210A. As a result, they generate an excessive amount of the prothrombin protein.

The prothrombin protein is typically generated to facilitate blood clotting and its production increases significantly following damage to a blood vessel.

Individuals with a mutation in the prothrombin gene exhibit an overproduction of prothrombin protein, surpassing the typical levels. This surplus of prothrombin protein in the bloodstream heightens the likelihood of clot formation.

Having a prothrombin gene mutation increases the likelihood of developing a pulmonary embolism or deep venous thrombosis. While it is possible to never experience a harmful clot, being aware of the symptoms can be beneficial in the event that one does occur.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Thrombosis and see a list of existing studies.

SNP polymorphisms related to the topic Thrombosis:

rs2288904The SLC44A2 rs2288904 variant is associated with the risk of recurrent venous thromboembolism.
rs2227589The SERPINC1 rs2227589 prothrombotic polymorphism affects antithrombin levels and risk of deep vein thrombosis.
rs6025The rs6025(A) allele encodes a mutation known as the Leiden mutation, R506Q, an 11.4-fold increased risk of venous thromboembolism.
rs5361The rs5361 Ser128Arg variant in this gene, known as E-selectin, is associated with several thrombotic disorders. Homozygous carriers of rs5361(CC) have a 4-fold higher risk of recurrent venous thromboembolism
rs2289252The rs2289252 F11 polymorphism is associated with the risk of venous thrombosis.
rs12343867The JAK2 46/1 haplotype confers a predisposition to essential thrombocythemia.
rs2066865Genetic variability in the fibrinogen-gamma FGG gene increases the risk of deep vein thrombosis by reducing plasma fibrinogen-gamma levels.
rs1799963G20210A mutation of the prothrombin F2 gene. 6.74-fold risk of thrombosis
rs268A break in the LPL lipoprotein lipase gene causes a 3-fold increased risk of idiopathic venous thromboembolism.
rs201381904A 10-fold higher risk of venous thromboembolism among rs201381904(T) carriers despite normal levels of antithrombin and anticoagulant activity.
rs2036914
rs1613662
rs13146272
rs1800595
rs6048
rs4524
rs670659
rs3756008
rs710446
rs657152
rs138925964
rs137852283
rs7080536
rs6427196
rs6046
rs4851770
rs2842700
rs1867312
rs7585314
rs13084580
rs6795524
rs2066864
rs4253417
rs4253421
rs4869589
rs16867574
rs2074492
rs9373523
rs7739314
rs10087301
rs4734879
rs4541868
rs8176749
rs687289
rs2519093
rs9411377
rs579459
rs10886430
rs3136516
rs191945075
rs174536
rs216311
rs1558519
rs216296
rs2851436
rs12824685
rs3211752
rs57328376
rs12445050
rs1048483
rs4548995
rs1671135
rs1654425
rs6083037
rs6088735
rs867186
rs10747514
rs9607928
rs3002417
rs7051718
rs143478537
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