Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
cervical cancer
CUI: C4048328
Disease: cervical cancer
0.010 GeneticVariation BEFREE The preliminary report revealed that the SNP rs4846048 of MTHFR enhanced the risk of CC through association with miR-522, which further regulated cell viability and apoptosis in Hela cells. 31750632 2020
Malignant tumor of cervix
CUI: C0007847
Disease: Malignant tumor of cervix
0.010 GeneticVariation BEFREE The preliminary report revealed that the SNP rs4846048 of MTHFR enhanced the risk of CC through association with miR-522, which further regulated cell viability and apoptosis in Hela cells. 31750632 2020
Cervix carcinoma
CUI: C0302592
Disease: Cervix carcinoma
0.010 GeneticVariation BEFREE The preliminary report revealed that the SNP rs4846048 of MTHFR enhanced the risk of CC through association with miR-522, which further regulated cell viability and apoptosis in Hela cells. 31750632 2020
Carcinoma breast stage IV
CUI: C0278488
Disease: Carcinoma breast stage IV
0.010 GeneticVariation BEFREE We have identified four potentially useful pharmacogenetic markers, TYMS rs2606241, TYMS rs2853741, MTHFR rs3737964, and MTHFR rs4846048 to predict capecitabine-induced HFS in MBC patients. 31601265 2019
Hyalinosis, Systemic
CUI: C2745948
Disease: Hyalinosis, Systemic
0.010 GeneticVariation BEFREE We have identified four potentially useful pharmacogenetic markers, TYMS rs2606241, TYMS rs2853741, MTHFR rs3737964, and MTHFR rs4846048 to predict capecitabine-induced HFS in MBC patients. 31601265 2019
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE We investigated four single nucleotide polymorphisms in the MTHFR 3'-UTR [2572 C > A (rs4846049), 4869 C > G (rs1537514), 5488 C > T (rs3737967), and 6685 T > C (rs4846048)] to elucidate associations between ischemic stroke prevalence and prognosis. 28963520 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.010 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.010 GeneticVariation BEFREE The aim of this study was to investigate the association of four MTHFR polymorphisms, 2572C>A [rs4846049], 4869C>G [rs1537514], 5488C>T [rs3737967], and 6685T>C [rs4846048] with colorectal cancer (CRC) in Koreans. 26046315 2015
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Our findings suggests that MTHFR rs1801133 C>T, rs4845882 G>A and rs4846048 A>G SNPs may be genetic modifiers for developing ESCC </span>in Chinese Han population. 24687778 2014