Annotation Detail

Information
Associated Genes
MTHFR
Associated Variants
MTHFR MUTATION
MTHFR MUTATION
MTHFR c.359+724A>G ( ENST00000641407.1, ENST00000376592.6, ENST00000376590.9, ENST00000423400.7, ENST00000376583.7, ENST00000376585.6 )
rs13162612
rs2924471
rs10475407
MTRR SNV
rs10512948
MTHFR c.359+724A>G ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1 )
rs13162612
rs2924471
rs10475407
MTRR SNV
rs10512948
Associated Disease
Malignant neoplasm of lung
Source Database
DisGeNET
Description
SNPs in MTRR (rs13162612; OR = 0.25; 95% CI: 0.11-0.58; rs10512948; OR = 0.61; 95% CI: 0.41-0.90; rs2924471; OR = 3.31; 95% CI: 1.66-6.59), and MTHFR (rs9651118; OR = 0.63; 95% CI: 0.43-0.95) and three SNP*nutrient interactions (choline*rs10475407; OR = 1.62; 95% CI: 1.11-2.42; choline*rs11134290; OR = 0.51; 95% CI: 0.27-0.92; and riboflavin*rs8767412; OR = 0.40; 95% CI: 0.15-0.95) were associated with lung cancer risk in never smokers.
Pubmed
23372658
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0567651602247305
Year of publication
2013
Drugs