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Gs193

From SNPedia

Gs193
Magnitude 2
Repute
Summary effects due to MTHFR polymorphisms affecting homocysteine?
Criteria Gs193/criteria


This has been self reported by 3 individuals with no obvious ill effects.

You have rs1801133(T;T) and rs1801131(C;C), variations in MTHFR which are linked to variations in homocysteine levels. This appears to have numerous consequences. See gs192 for similar, but more common genotypes. In [PMID 15834246] it is speculated that this compound homozygous mutation may not be compatible with life. It seems you prove otherwise.

MTHFR mutation frequencies in a sample of 37,000 individuals:

  • 677CT/1298AA 22.8% - 1 heterozygous mutation
  • 677CC/1298CA 20.8% - 1 heterozygous mutation
  • 677CT/1298CA 19.8% - 2 heterozygous mutations (compound heterozygous) gs192
  • 677CC/1298AA 15.3% - no mutations
  • 677TT/1298AA 12.2% - 1 homozygous mutation
  • 677CC/1298CC 08.8% - 1 homozygous mutation
  • 677TT/1298CA 00.05% - 1 heterozygous and 1 homozygous mutation gs192
  • 677CT/1298CC 00.03% - 1 heterozygous and 1 homozygous mutation gs192
  • 677TT/1298CC none - 2 homozygous mutations (compound homozygous) gs193