Annotation Detail
Information
- Associated Genes
- MTHFR
- Associated Variants
-
MTHFR MUTATION
MTHFR MUTATION
ATM p.Phe858Leu (p.F858L) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Pro1054Arg (p.P1054R) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Val1570Ala (p.V1570A) ( ENST00000531525.3, ENST00000713844.1, ENST00000601453.3, ENST00000675843.1, ENST00000278616.10, ENST00000452508.7 )
ATM p.Phe858Leu (p.F858L) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Pro1054Arg (p.P1054R) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 )
ATM p.Val1570Ala (p.V1570A) ( ENST00000278616.10, ENST00000452508.7, ENST00000531525.3, ENST00000601453.3, ENST00000675843.1, ENST00000713844.1 ) - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Further SNPs associated with CRC risk included several previously reported to be associated with cancer risk including ATM F858L [OR=1.48; 95% confidence interval (CI): 1.06-2.07] and P1054R (OR=1.42; 95% CI: 1.14-1.77) and MTHFR A222V (OR=0.82; 95% CI: 0.69-0.97).
- Pubmed
- 17000706
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.10687274533595
- Year of publication
- 2006
Drugs