Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. 9869612

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Prothrombin 20210G>A genotype and C-reactive protein level. 22021457

2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. 21452290

2011
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism--pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Study Group for Pooled-Analysis in Venous Thromboembolism. 11583312

2001
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR A common prothrombin variant (20210 G to A) increases the risk of myocardial infarction in young women. 9292507

1997
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. 11812557

2002
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. 8916933

1996
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR The risk of recurrent venous thromboembolism among heterozygous carriers of the G20210A prothrombin gene mutation. 11380448

2001
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. 8943161

1996
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Prothrombin G20210A mutation is associated with recurrent pregnancy loss: a systematic review and meta-analysis update. 25528068

2015
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Hemochromatosis and iron-overload screening in a racially diverse population. 15858186

2005
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Simultaneous genotyping for factor V Leiden and prothrombin G20210A variant by a multiplex PCR-SSCP assay on whole blood. 10348711

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants). 27124787

2016
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Prothrombin G20210A mutation is associated with young-onset stroke: the genetics of early-onset stroke study and meta-analysis. 24619398

2014
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 19554541

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR The 20210 G-->A mutation in the 3'-untranslated region of the prothrombin gene and the risk for arterial thrombotic disease. 10027711

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations. 15059842

2004
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Cytoplasmic stabilities of 3'UTR-polymorphic prothrombin mRNAs. 20723024

2010
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Geographic distribution of the 20210 G to A prothrombin variant. 9569177

1998
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 8696333

1996
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. 10406905

1999
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR A cohort of 6,020 men aged 30-53 years was screened for HFE C282Y, H63D, and S65C variants by restriction fragment length polymorphism analysis. 19159930

2009
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. 9531249

1998
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9162021

1997
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
A 0.900 CausalMutation CLINVAR G1691A factor V and G20210A FII mutations, acute ischemic stroke of unknown cause, and patent foramen ovale. 22909823

2012