Links to SNPedia
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:
Publications on this SNP on Mendeley
Evidence compiled by the Personal Genome Project
Gene |
Impact |
Trait |
Summary |
Inheritance |
LRP5 |
High clinical importance, Uncertain pathogenic |
|
This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. |
recessive |
Publications listed by Genome.gov
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Users who share this SNP: