rs12483377(A;A)
Benign polymorphism; no significant effect
- Magnitude
- 1.0Minor
- Repute
- Good
- Frequency
- <1%Average of 11 populations
- On SNPedia
- rs12483377(A;A)
- Gene
- COL18A1
Frequency
Share of people with A;A in each HapMap population.
- Tuscan1%
- European ancestry (Utah)<1%
- Han Chinese (Beijing)0%
- Japanese (Tokyo)0%
- Yoruba (Nigeria)0%
- African ancestry (Southwest US)0%
- Chinese (Denver)0%
- Gujarati Indian0%
- Luhya (Kenya)0%
- Mexican ancestry (Los Angeles)0%
- Maasai (Kenya)0%
Other genotypes of rs12483377
Notes
From SNPedia
Found this: http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2443.2005.00890.x/full "In addition, a compound heterozygous D104N endostatin polymorphism (dbSNP/rs12483377) was reported in two further Knobloch sibs (Menzel et al. 2004) but remains of unclear functional relevance (Antonarakis et al. 2005; Suzuki et al. 2005). While this particular variant has also been associated with increased risk for prostate cancer (Iughetti et al. 2001) recent in vitro angiogenesis studies suggest that the D104N endostatin variant is not functionally relevant on its own (Macpherson et al. 2004)." https://www.23andme.com/you/community/thread/31829/ Early paper claimed high myopia, vitreoretinal degeneration with retinal detachment, and congenital encephalocele disputed by . Fairly common among promethease users.
References
Source and license
Adapted from rs12483377(A;A) on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.