Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1537514
rs1537514
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). 24130171

2014

dbSNP: rs1537514
rs1537514
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.010 GeneticVariation BEFREE We found that polymorphism of rs1537514 showed the most significant effect: heterozygote associated with better clinical benefit (P = 0.002) and decreased risk of grade 3 or 4 gastrointestinal toxicity (P = 0.027), while the mutant homozygote associated with increased risk of severe gastrointestinal toxicity (P = 0.031) and thrombocytopenia (P = 009). 25104092

2014

dbSNP: rs1537514
rs1537514
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514). 24130171

2014

dbSNP: rs1537514
rs1537514
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 GeneticVariation BEFREE The results indicate that a heterozygous advantage may exist in certain MTHFR variants, and the polymorphisms (especially rs1537514) may play a predictive role of treatment efficacy and adverse effects in NSCLC patients treated with platinum-based chemotherapy. 25104092

2014