Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE Among these three factors, folate deficiency had the greatest contribution to the serum tHcy concentration, followed by (in order of decreasing effect) MTHFR C677T and vitamin B12 deficiency. 28094233

2017

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. 17449548

2007

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. 21878957

2012

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE Our results showed a significant association between homozygous MTHFR c.677C>T variant and T allele frequencies and vitamin B12 deficiency in the Jordanian population. 30581350

2018

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE Logistic regression analysis results revealed that the <i>MTHFR</i> C677T genotype (TT vs. CT and CC) and vitamin B12 deficiency were risk factors for SCD. 30687218

2018

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE Hyperhomocysteinemia, a risk factor for thrombosis, recurrent miscarriages, and osteoporosis, might derive from acquired folate and vitamin B 12 deficiencies and from a C677T mutation in methylene-tetrahydrofolate reductase (MTHFR) gene. 15952099

2005

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE In this study, our aim was to investigate the association of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on the vitamin B12 therapy response in 95 patients with vitamin B12 deficiency and 92 healthy control subjects using vitamin B12, plasma total homocysteine (tHcy), and folate as the main measure of outcome. 22084937

2012

dbSNP: rs1217691063
rs1217691063
0.080 GeneticVariation BEFREE We report the lack of megaloblastic anaemia in a patient with severe methionine synthase deficiency who is also homozygous for C677T in MTHFR, hypothesize that the MTHFR polymorphism protects the patient against anaemia and speculate that homozygosity for MTHFR C677T could cause the dissociation between haematological and neurological disease seen in some patients with vitamin B12 deficiency. 9453374

1997

dbSNP: rs1805087
rs1805087
MTR
0.020 GeneticVariation BEFREE Finally, folate fortification unveiled cobalamin deficiency in some patients, associated with the methionine synthase A2756G mutation. 15063399

2004

dbSNP: rs1805087
rs1805087
MTR
0.020 GeneticVariation BEFREE Vitamin B12 deficiency of ADHD probands (P=0.01) correlated with rs1801133 'T' and rs1805087'GG'. 28250422

2017

dbSNP: rs777919630
rs777919630
CBS
0.020 GeneticVariation BEFREE Gene polymorphism (especially MTHFR C677T transition), folate and vitamin B12 deficiencies, male gender and high blood lead level appear to be contributing towards the development of hyperhomocysteinemia in a Pakistani population. 22470444

2012

dbSNP: rs777919630
rs777919630
CBS
0.020 GeneticVariation BEFREE One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. 21878957

2012

dbSNP: rs1801131
rs1801131
0.010 GeneticVariation BEFREE On the other hand, the MTHFR c.1286A>C variant did not show significant association with vitamin B12 deficiency in the selected population. 30581350

2018

dbSNP: rs1801133
rs1801133
0.010 GeneticVariation BEFREE Vitamin B12 deficiency of ADHD probands (P=0.01) correlated with rs1801133 'T' and rs1805087'GG'. 28250422

2017

dbSNP: rs1801198
rs1801198
0.010 GeneticVariation BEFREE TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B12 deficiency are correlated with CD. 28472811

2017

dbSNP: rs368087026
rs368087026
0.010 GeneticVariation BEFREE One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. 21878957

2012

dbSNP: rs397507444
rs397507444
0.010 GeneticVariation BEFREE However, he had vitamin B12 deficiency with increased homocysteine levels and heterozygous mutation of the MTHFR gene at A1298C. 28936998

2018

dbSNP: rs9606756
rs9606756
0.010 GeneticVariation BEFREE TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B12 deficiency are correlated with CD. 28472811

2017

dbSNP: rs1555381324
rs1555381324
AMN
ACT 0.700 CausalMutation CLINVAR

dbSNP: rs113624356
rs113624356
G 0.700 CausalMutation CLINVAR