Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0699790
Disease:
Colon Carcinoma 		0.010 GeneticVariation BEFREE One-carbon genetic variants and the role of MTHFD1 1958G>A in liver and colon cancer risk according to global DNA methylation. 28968444 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE These findings may have implications for CRC tumor growth and prognosis in individuals with the R653Q variant.© 2016 Wiley Periodicals, Inc. 27597531 2017
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.020 GeneticVariation BEFREE We examined whether polymorphisms in these genes, i.e., cSHMT L474F, MTHFD1 R653Q and GCPII H475Y, modify the risk of CRC in the prospective Physicians' Health Study. 15122597 2004
dbSNP: rs17824591
rs17824591
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). 23893618 2013
dbSNP: rs1950902
rs1950902
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Statistically significant associations were observed between CRC risk and functionally defined candidate SNPs of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1; K134R), 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR; P450R), and PR domain containing 2 with ZNF domain (PRDM2; S450N) and a literature candidate SNP of thymidylate synthase (TYMS; g.676789A>T; nominal P < .05). 26108676 2015
dbSNP: rs8003379
rs8003379
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80). 23893618 2013
dbSNP: rs2236225
rs2236225
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C0009404
Disease:
Colorectal Neoplasms 		0.010 GeneticVariation BEFREE Murine MTHFD1-synthetase deficiency, a model for the human MTHFD1 R653Q polymorphism, decreases growth of colorectal tumors. 27597531 2017
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 GeneticVariation CLINVAR Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
dbSNP: rs141210410
rs141210410
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		C 0.800 GeneticVariation CLINVAR Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
dbSNP: rs1555336810
rs1555336810
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs1555337681
rs1555337681
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
dbSNP: rs1555337681
rs1555337681
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
dbSNP: rs1555337681
rs1555337681
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs1555337681
rs1555337681
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 GeneticVariation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.800 GeneticVariation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
dbSNP: rs370444838
rs370444838
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		0.800 GeneticVariation UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
dbSNP: rs760889414
rs760889414
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
CUI: C4540434
Disease:
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 		T 0.700 CausalMutation CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015