Annotation Detail

Information
Associated Genes
ALDH1L1
Associated Variants
rs603097
CBS p.Tyr233= (p.Y233=) ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
ALDH1L1 p.Asp803Gly (p.D803G) ( ENST00000273450.7, ENST00000393431.6, ENST00000393434.7, ENST00000452905.6, ENST00000455064.6, ENST00000472186.5 )
MTRR p.Leu179= (p.L179=) ( ENST00000264668.6, ENST00000440940.7 )
rs603097
CBS p.Tyr233= (p.Y233=) ( ENST00000352178.9, ENST00000359624.7, ENST00000398158.5, ENST00000398165.8 )
ALDH1L1 p.Asp803Gly (p.D803G) ( ENST00000273450.7, ENST00000393431.6, ENST00000393434.7, ENST00000452905.6, ENST00000455064.6, ENST00000472186.5 )
MTRR p.Leu179= (p.L179=) ( ENST00000264668.6, ENST00000440940.7 )
Associated Disease
Lymphoma, Non-Hodgkin
Source Database
DisGeNET
Description
A significantly reduced risk of NHL was associated with the homozygous TT genotype in CBS (rs234706, Ex9+33C>T) (OR = 0.51, 95 % CI 0.31-0.84), the homozygous CC genotype in MBD2 (rs603097, -2176C>T) (OR = 0.37, 95 % CI 0.17-0.79), the heterozygote AG genotype in FTHFD (rs1127717, Ex21+31A>G) (OR = 0.73, 95 % CI 0.55-0.98), and a borderline significantly reduced risk of NHL was observed for the homozygous CC genotype in MTRR (rs161870, Ex5+136T>C) (OR = 0.23, 95 % CI 0.05-1.04).
Pubmed
23913011
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00554838957344497
Year of publication
2013
Drugs