rs1217691063, MTHFR

N. diseases: 614
Disease: Cleft lip or lips ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
0.040 GeneticVariation BEFREE This integrated analysis supports the previous finding of differences in DNA methylation across the two sides of cleft lip and further suggests a possible role of MTHFR c.677C>T genotype in establishing this difference. 31161688 2019
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
0.040 GeneticVariation BEFREE We revealed statistically association between the MTHFR C677T gene polymorphism and nonsyndromic cleft lip and/or palate in the Turkish population. 23725631 2013
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
0.040 GeneticVariation BEFREE The pooled results revealed no statistical association between infant and maternal C677T and A1298C variants and risk of cleft lip with or without palate (CL/P) or cleft palate only (CPO), except for the maternal 677TT genotype for CL/P, the OR was 1.32 (95% confidence interval [CI], 1.06-1.63) as compared to the normal 677CC genotype. 22450905 2012
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
0.040 GeneticVariation BEFREE Infant C677T mutation in MTHFR, maternal periconceptional vitamin use, and cleft lip. 9843036 1998