DHFR c.243-2490C>A

Variant ID: 5-79936318-G-T

NM_000791.3(DHFR):c.243-2490C>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


A Common Polymorphism in the MTHFD1 Gene Is a Modulator of Risk of Congenital Heart Disease.

Journal Of Cardiovascular Development And Disease
Karas Kuželički, Nataša N; Šmid, Alenka A; Vidmar Golja, Maša M; Kek, Tina T; Geršak, Borut B; Mazič, Uroš U; Mlinarič-Raščan, Irena I; Geršak, Ksenija K
Publication Date: 2022-05-24

Variant appearance in text: rs1677693
PubMed Link: 35735795
Variant Present in the following documents:
  • Main text
  • jcdd-09-00166.pdf
View BVdb publication page



Folate Insufficiency Due to MTHFR Deficiency Is Bypassed by 5-Methyltetrahydrofolate.

Journal Of Clinical Medicine
Vidmar Golja, Maša M; Šmid, Alenka A; Karas Kuželički, Nataša N; Trontelj, Jurij J; Geršak, Ksenija K; Mlinarič-Raščan, Irena I
Publication Date: 2020-09-02

Variant appearance in text: rs1677693
PubMed Link: 32887268
Variant Present in the following documents:
  • Main text
  • jcm-09-02836.pdf
View BVdb publication page



MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics
Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J
Publication Date: 2019-07-01

Variant appearance in text: rs1677693
PubMed Link: 31262291
Variant Present in the following documents:
  • 12920_2019_546_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Maternal and infant gene-folate interactions and the risk of neural tube defects.

American Journal Of Medical Genetics. Part A
Etheredge, Analee J AJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Lammer, Edward J EJ; Zhu, Huiping H; Mitchell, Laura E LE; Shaw, Gary M GM
Publication Date: 2012-10

Variant appearance in text: rs1677693
PubMed Link: 22903727
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.

American Journal Of Medical Genetics. Part A
Zhu, Huiping H; Yang, Wei W; Lu, Wei W; Etheredge, Analee J AJ; Lammer, Edward J EJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Shaw, Gary M GM
Publication Date: 2012-05

Variant appearance in text: rs1677693
PubMed Link: 22495907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Control of prostate cancer associated with withdrawal of a supplement containing folic acid, L-methyltetrahydrofolate and vitamin B12: a case report.

Journal Of Medical Case Reports
Tisman, Glenn G; Garcia, April A
Publication Date: 2011-08-25

Variant appearance in text: rs1677693
PubMed Link: 21867542
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dihydrofolate reductase gene variations in susceptibility to disease and treatment outcomes.

Current Genomics
Askari, Bahram S BS; Krajinovic, Maja M
Publication Date: 2010-12

Variant appearance in text: rs1677693
PubMed Link: 21629435
Variant Present in the following documents:
  • Main text
  • CG-11-578.pdf
View BVdb publication page



Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.

Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Publication Date: 2011-04

Variant appearance in text: rs1677693
PubMed Link: 21274745
Variant Present in the following documents:
View BVdb publication page



A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Levine, A Joan AJ; Figueiredo, Jane C JC; Lee, Won W; Conti, David V DV; Kennedy, Kathleen K; Duggan, David J DJ; Poynter, Jenny N JN; Campbell, Peter T PT; Newcomb, Polly P; Martinez, Maria Elena ME; Hopper, John L JL; Le Marchand, Loic L; Baron, John A JA; Limburg, Paul J PJ; Ulrich, Cornelia M CM; Haile, Robert W RW
Publication Date: 2010-07

Variant appearance in text: rs1677693
PubMed Link: 20615890
Variant Present in the following documents:
  • Main text
View BVdb publication page



No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Stevens, Victoria L VL; Rodriguez, Carmen C; Sun, Juzhong J; Talbot, Jeffrey T JT; Thun, Michael J MJ; Calle, Eugenia E EE
Publication Date: 2008-12

Variant appearance in text: rs1677693
PubMed Link: 19064578
Variant Present in the following documents:
  • Main text
View BVdb publication page