rs121909149, SH3BP2

N. diseases: 2
Disease: Osteopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.020 GeneticVariation BEFREE Therefore, we investigated whether P416R mutant SH3BP2 is involved in TNF-α-mediated osteoclast formation and bone loss. 24916406 2014
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.020 GeneticVariation BEFREE A mouse model carrying a Pro416Arg mutation in SH3BP2 develops osteopenia and expansile lytic lesions in bone and some soft tissue organs. 22640988 2012