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rs12483377(A;A)

From SNPedia

no significant effect
Is agenotype
ofrs12483377
GeneCOL18A1
Chromosome21
Position45,511,195
mentionedby
Magnitude1
Geno Mag Summary
(A;A) 1 no significant effect
(G;G) 0 common in clinvar

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 [PMID 14695535] disputed by [PMID 15714516]. Fairly common among promethease users.