Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C2584409
Disease:
Prothrombin G20210A mutation
0.040 GeneticVariation BEFREE Thrombophilia workup revealed prothrombin G20210A mutation (heterozygous), C677T mutation of methylenetetrahydrofolate reductase gene (homozygous), elevated level of lipoprotein (a), and high level of coagulation factor VIII. 18160613 2008
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C2584409
Disease:
Prothrombin G20210A mutation
0.040 GeneticVariation BEFREE The prevalence of the factor V Leiden mutation (FVL) and the prothrombin G20210A mutation and of homozygosity for the methylenetetrahydrofolate reductase (MTHFR) C677T substitution has been analyzed in a cohort of 175 patients with gastrointestinal adenocarcinoma by the polymerase chain reaction-restriction fragment length polymorphism technique. 12115343 2002
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C2584409
Disease:
Prothrombin G20210A mutation
0.040 GeneticVariation BEFREE In conclusion, coagulant factor V gene G1691A mutation and prothrombin G20210A mutation are very rare, while MTHFR C677T mutation is very common, and all of them are not associated with pulmonary thromboembolism in the Chinese population. 12165282 2002
dbSNP: rs1188383936
rs1188383936
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C2584409
Disease:
Prothrombin G20210A mutation
0.040 GeneticVariation BEFREE 102 patients with two or more consecutive abortions and 128 women without miscarriage were analyzed for factor V Leiden mutation (FVL), prothrombin G20210A mutation (PTM), C677T mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, glycoprotein IIIa (GPIIIa) C1565T polymorphism, and beta-fibrinogen G-455A polymorphism by polymerase chain reaction (PCR) techniques. 11506076 2001