rs12483377
A SNP in the COL18A1 gene on chromosome 21. Its most notable genotype is A;A: benign polymorphism; no significant effect
- Gene
- COL18A1
- Location
- Chr 2145,511,195 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 6%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableGoodbenign polymorphism; no significant effect
- A;GGoodbenign polymorphism
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageA;A <1% A;G 7% G;G 92%
- European ancestry (Utah)A;A <1% A;G 10% G;G 89%
- Han Chinese (Beijing)A;A 0% A;G 5% G;G 95%
- Japanese (Tokyo)A;A 0% A;G <1% G;G 99%
- Yoruba (Nigeria)A;A 0% A;G 3% G;G 97%
- African ancestry (Southwest US)A;A 0% A;G 11% G;G 90%
- Chinese (Denver)A;A 0% A;G 2% G;G 98%
- Gujarati IndianA;A 0% A;G 8% G;G 92%
- Luhya (Kenya)A;A 0% A;G <1% G;G 99%
- Mexican ancestry (Los Angeles)A;A 0% A;G 16% G;G 85%
- Maasai (Kenya)A;A 0% A;G 9% G;G 91%
- TuscanA;A 1% A;G 17% G;G 82%
Related
Notes
From SNPedia
Show notes, about 200 words
aka c.4309G>A (p.Asp1437Asn) formerly considered a mutation; now considered benign Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS).
A;A
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 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.