rs1801133
| SNP: rs1801133 | |
|---|---|
| Name(s) | C677T, Ala222Val, A222V |
| Gene | MTHFR |
| Chromosome | 1 |
| External databases | |
| Ensembl | Human SNPView |
| dbSNP | 1801133 |
| HapMap | 1801133 |
| SNPedia | 1801133 |
| AlzGene | Meta-analysis Overview |
| SzGene | Meta-analysis Overview |
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]
Related genetic variants
A1298C is a SNP in the same gene. Studies have investigated the combined effect of C677T and A1298C.[6]
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