MTHFD1L c.780+6477A>C

Variant ID: 6-151215594-A-C

NM_015440.4(MTHFD1L):c.780+6477A>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Influence of SH2B3, MTHFD1L, GGCX, and ITGB3 Gene Polymorphisms on theVariability on Warfarin Dosage Requirements and Susceptibility to CVD in the Jordanian Population.

Journal Of Personalized Medicine
Al-Eitan, Laith N LN; Almasri, Ayah Y AY; Khasawneh, Rame H RH; Alghamdi, Mansour A MA
Publication Date: 2020-09-09

Variant appearance in text: rs803422
PubMed Link: 32916786
Variant Present in the following documents:
  • Main text
  • jpm-10-00117.pdf
View BVdb publication page



Genome-wide genetic interaction analysis of glaucoma using expert knowledge derived from human phenotype networks.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Hu, Ting T; Darabos, Christian C; Cricco, Maria E ME; Kong, Emily E; Moore, Jason H JH
Publication Date: 2015

Variant appearance in text: rs803422
PubMed Link: 25592582
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.

Plos Genetics
Naj, Adam C AC; Beecham, Gary W GW; Martin, Eden R ER; Gallins, Paul J PJ; Powell, Eric H EH; Konidari, Ioanna I; Whitehead, Patrice L PL; Cai, Guiqing G; Haroutunian, Vahram V; Scott, William K WK; Vance, Jeffery M JM; Slifer, Michael A MA; Gwirtsman, Harry E HE; Gilbert, John R JR; Haines, Jonathan L JL; Buxbaum, Joseph D JD; Pericak-Vance, Margaret A MA
Publication Date: 2010-09-23

Variant appearance in text: rs803422
PubMed Link: 20885792
Variant Present in the following documents:
  • Main text
  • pgen.1001130.pdf
View BVdb publication page



A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.

Human Mutation
Parle-McDermott, Anne A; Pangilinan, Faith F; O'Brien, Kirsty K KK; Mills, James L JL; Magee, Alan M AM; Troendle, James J; Sutton, Marie M; Scott, John M JM; Kirke, Peadar N PN; Molloy, Anne M AM; Brody, Lawrence C LC
Publication Date: 2009-12

Variant appearance in text: rs803422
PubMed Link: 19777576
Variant Present in the following documents:
  • Main text
View BVdb publication page