Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908668
rs121908668
LRP5
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 		0.700 GeneticVariation UNIPROT Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling. 17295608

2007
dbSNP: rs121908668
rs121908668
LRP5
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 		0.700 GeneticVariation UNIPROT Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation. 15824861

2005
dbSNP: rs121908668
rs121908668
LRP5
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 		0.700 GeneticVariation UNIPROT The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd. 15143163

2004
dbSNP: rs121908668
rs121908668
LRP5
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 		0.700 GeneticVariation UNIPROT High bone density due to a mutation in LDL-receptor-related protein 5. 12015390

2002
dbSNP: rs121908668
rs121908668
LRP5
CUI: C1866079
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 		0.700 GeneticVariation UNIPROT A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. 11741193

2002