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Rs1801133
Single Nucleotide Polymorphism within the MTHFR gene From Wikipedia, the free encyclopedia
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C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene.
Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics.[1]
It has been related to
In 2000 association studies on oral clefts, Down syndrome, and fetal anticonvulsant syndrome were either unreplicated or had yielded conflicting results.[1]
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Related genetic variants
A1298C is a SNP in the same gene. Studies have investigated the combined effect of C677T and A1298C.[6]
References
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