Annotation Detail
Information
- Associated Genes
- LOC102724560
- Associated Variants
-
SHMT1 c.*66C>T
(
ENST00000316694.8,
ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
CBS p.Ala360= (p.A360=) ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
ALDH1L1 p.Leu405= (p.L405=) ( ENST00000273450.7, ENST00000393431.6, ENST00000393434.7, ENST00000452905.6, ENST00000455064.6, ENST00000472186.5 )
SHMT1 c.*66C>T ( ENST00000316694.8, ENST00000354098.7 )
SHMT1 p.Leu474Phe (p.L474F) ( ENST00000316694.8, ENST00000354098.7 )
CBS p.Ala360= (p.A360=) ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
ALDH1L1 p.Leu405= (p.L405=) ( ENST00000273450.7, ENST00000393431.6, ENST00000393434.7, ENST00000452905.6, ENST00000455064.6, ENST00000472186.5 ) - Associated Disease
- Lymphoma, Non-Hodgkin
- Source Database
- DisGeNET
- Description
- A borderline significantly increased risk of NHL was also observed for CBS (rs1801181, Ex13+41C>T), FTHFD (rs2305230, Ex10-40G>T), SHMT1 (rs1979277, Ex12+138C>T), and SHMT1 (rs1979276, Ex12+236T>C), and these associations appeared to be contingent on dietary nutrient intakes.
- Pubmed
- 23913011
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2013
Drugs