Links to SNPedia
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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).
Publications on this SNP on the Public Library of Science:
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Publications on this SNP on Mendeley
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Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
OPTN |
Low clinical importance, Uncertain benign |
|
Originally, the variant was believed to be associated with adult-onset primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) after it was found in three individuals in a 2002 study. An additional study in 2005 observed the variant in 6 POAG patients. Further investigation, however, has found the variant to be a non-disease causing polymorphism. |
dominant |
Publications listed by Genome.gov
There are no results from genome.gov yet. Please come back later.
Users who share this SNP: