Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908673
rs121908673
CUI: C1843330
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1
0.800 GeneticVariation UNIPROT Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 12579474

2003