Annotation Detail
Information
- Associated Genes
- CYP2A6
- Associated Variants
-
CYP2A6 MUTATION
CYP2A6 MUTATION
GSTM3 p.Val224Ile (p.V224I) ( ENST00000256594.7, ENST00000361066.7 )
MTHFR p.Ile266Val (p.I266V) ( ENST00000376592.6, ENST00000641407.1, ENST00000376590.9, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7, ENST00000376585.6 )
MTHFR p.Ile266Leu (p.I266L) ( ENST00000376590.9, ENST00000376592.6, ENST00000641407.1, ENST00000376585.6, ENST00000423400.7, ENST00000641820.1, ENST00000376583.7 )
GSTA2 p.Ser112Thr (p.S112T) ( ENST00000493422.3 )
GSTM3 p.Val224Ile (p.V224I) ( ENST00000256594.7, ENST00000361066.7 )
MTHFR p.Ile266Val (p.I266V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
MTHFR p.Ile266Leu (p.I266L) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
GSTA2 p.Ser112Thr (p.S112T) ( ENST00000493422.3 ) - Associated Disease
- Carcinoma of lung
- Source Database
- DisGeNET
- Description
- Heterozygote carriers of SNPs in CYP1A2 1545T>C, -164C>A and -740T>G; CYP2A6 -47A>C; MDR1 3435T>C; NAT1 1088T>A and 1095A>C; GSTA2 S112T; GSTM3 V224I and MTHFR A222V had altered risk of developing lung cancer.
- Pubmed
- 17259654
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00732893054616819
- Year of publication
- 2007
Drugs