Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE While factor V Leiden mutation was more common in women with pregnancy loss (25% vs. 7.6%), factor II G20210A and homozygosity for MTHFR C677T contributed to pregnancy loss only in the presence of other thrombophilia. 11821094

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE After confirming clinically suspected thromboembolism with suitable imaging methods, pediatric patients should be screened for common gene mutations (factor V G1691A, prothrombin G20210A and MTHFR C677T genotypes), rare genetic deficiencies (protein C, protein S, antithrombin, and plasminogen), and new candidates for genetic thrombophilia causing elevated levels of lipoprotein(a), and homocysteine, and probable genetic risk factors (elevations in fibrinogen, factor IX, and factor VIIIC, and decreases in factor XII). 12172465

2002

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE The relative risks (odds ratio, OR) of various risk factors for venous thrombophilia, including sex, antithrombin III, protein C (PC), protein S (PS) and plasminogen deficiencies, and C677T homozygous mutation of methylenetetrahydrofolate reductase gene were assessed using age matched (+/-5 years) conditional logistic regression analysis in 116 Chinese venous thrombophilic patients (58 males; 58 females; mean age 47.5+/-17.7 [SD] years) and 125 healthy controls (67 males; 58 females; mean age 45.5+/-15.7 years). 10973672

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Over 50 unselected women with maternal venous thromboembolism were screened for the prothrombin 20210 G-->A and MTHFR C677T mutations, in addition to screening for other thrombophilias. 10759281

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Common C677T polymorphism in the methylenetetrahydrofolate reductase gene increases the risk for deep vein thrombosis in patients with predisposition of thrombophilia. 10706928

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE We concluded that, in Taiwanese Chinese, methylenetetrahydrofolate reductase C677T mutation is a common genetic mutation, but T/T homozygote is not a significant risk factor for venous thrombophilia. 10680639

2000

dbSNP: rs1217691063
rs1217691063
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation BEFREE Here we carried out an investigation of the most common inherited risk factors for hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210G-->A in the prothrombin gene, and also the homozygosity for the 677C-->T transition in the methylenetetrahydrofolate reductase gene (MTHFR). 9890294

1999