Gene MTHFR Ensembl Human SNPView HapMap 1801133 | Chromosome 1 dbSNP 1801133 | |
Name(s) C677T, Ala222Val, A222V | ||
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.
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.
Related genetic variants
A1298C is a SNP in the same gene. Studies have investigated the combined effect of C677T and A1298C.
References
Rs1801133 Wikipedia(Text) CC BY-SA