Links to SNPedia
Title |
Summary |
rs12483377 A/A
|
No significant effect
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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 |
rs12483377 G/G
|
Common in clinvar |
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
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Evidence compiled by the Personal Genome Project
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Users who share this SNP: