Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs746686599
rs746686599
TNFSF11
0.010 GeneticVariation BEFREE Patients with a T253I mutation in LRP5 have a high bone mass phenotype, characterized by increased mineralizing surface index but abnormally low numbers of small osteoclasts. 16251418

2005
dbSNP: rs776998846
rs776998846
DMD
0.010 GeneticVariation BEFREE We found a novel heterozygous missense mutation (M282V) in the LRP5 gene in a patient with a high bone mass phenotype. 17295608

2007
dbSNP: rs794728195
rs794728195
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs794728208
rs794728208
FBN1
T 0.700 CausalMutation CLINVAR

dbSNP: rs794728334
rs794728334
FBN1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs946579858
rs946579858
TCF4
0.010 GeneticVariation BEFREE We found a novel heterozygous missense mutation (M282V) in the LRP5 gene in a patient with a high bone mass phenotype. 17295608

2007