TCN2, transcobalamin 2, 6948

N. diseases: 104; N. variants: 30
Disease: Down Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation disease BEFREE The polymorphisms transcobalamin II (TCN2) c.776C>G, betaine-homocysteine S-methyltransferase (BHMT) c.742A>G, methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR) c.677 C>T and the MTHFR 677C-1298A-1317T haplotype modulate DS risk. 22377700 2012
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		0.020 GeneticVariation disease BEFREE There was no evidence of any association between the RFC1 A80G and TC2 C776G polymorphisms and the maternal risk of DS in the sample evaluated. 19274320 2008