Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs545508982
rs545508982
LRP5
0.700 GeneticVariation UNIPROT Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 18602879

2008
dbSNP: rs545508982
rs545508982
LRP5
0.700 GeneticVariation UNIPROT A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome. 17437160

2007
dbSNP: rs545508982
rs545508982
LRP5
0.700 GeneticVariation UNIPROT A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene. 16679074

2006
dbSNP: rs545508982
rs545508982
LRP5
0.700 GeneticVariation UNIPROT Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. 16252235

2005
dbSNP: rs545508982
rs545508982
LRP5
0.700 GeneticVariation UNIPROT LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 11719191

2001