Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE Recurrent Myocardial Infarction Despite Normal C-reactive Protein in a Patient with Behcet's Disease and Compound Heterozygous Methylenetetrahydrofolate Reductase (MTHFR) Mutations (C677T and A1298C). 31602349

2019
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE Association of MTHFR gene C677T mutation with BD has been reported in different populations. 23665953

2014
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and variations of homocysteine concentrations in patients with Behcet's disease. 23827456

2013
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE Some single nucleotide polymorphism (SNP) (G1691A in factor V gene, also called factor V Leiden [FVL], G20210A in prothrombin gene and C677T in methyltetrahydrofolate reductase [MTHFR] gene) have been associated with thrombosis and ocular involvement in BD with controversial results. 23207285

2013
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE The results of this study showed that there was a high association between the MTHFR gene C677T mutation and BD. 22773907

2012
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE The aim of this study was to evaluate the association between thiolactonase (HTLase) activity and plasma homocysteine levels (tHcy) in a BD population and to investigate their association with methylenetetrahydrofolate reductase (MTHFR) 677C-->T genotype. 18076365

2008
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE To investigate the possible genetic factor for the elevation of plasma Hcy level in patients with BD by examining gene interaction with the MTHFR C677T polymorphism, a crucial factor of the Hcy metabolism. 16299146

2005
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE The rates of homozygosity for the MTHFR C677T mutation in the BD and HC groups were 7.5% and 10%, respectively. 14504916

2003
dbSNP: rs1217691063
rs1217691063
MTHFR
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.090 GeneticVariation BEFREE MTHFR gene C677T mutation does not increase risk of DVT in BD either alone or combined with FV Leiden mutation. 11128675

2000