Gs192
From SNPedia
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.
- 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.