rs775144154, SLC19A1

N. diseases: 38
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.020 GeneticVariation BEFREE The aim of the present study was to evaluate chromosome damage, measured by means of the micronucleus assay, in peripheral lymphocytes of a group of women (n = 34) who had a DS child in young age (<35 years) and in a control group (n = 35), and to correlate them with MTHFR 677C > T and 1298A > C, RFC-1 80G > A and MTR 2756A > G polymorphisms. 17702010 2007
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.020 GeneticVariation BEFREE The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C > T, MTHFR 1298A > C, the methionine synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21. 16115349 2005