Gs192

Gs192
Magnitude	2.9
Repute	Bad
Summary	MTHFR polymorphisms affecting homocysteine
Criteria	Gs192/criteria

You have a combination of 2 SNP variations in MTHFR which influence homocysteine levels. This is found in ~20% of people. 0.08% of people had a double copy of a mutation in one of the SNPs, and a single mutation in the other. [PMID 15834246] .

gs193 indicates double mutations in both snps, and people with this are believed to be critically impacted, however several promethease users have self reported this genotype with no apparent consequences.

• rs1801131 is at position 1298
• rs1801133 is at position 677

• http://www.mthfrheds.com/
• https://www.23andme.com/you/community/thread/5312/
• https://www.23andme.com/you/community/thread/2001/
• http://www.youtube.com/watch?v=ZA8GUIRqIkE

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

Note that both snps have minus orientation.