rs421016, GBA

N. diseases: 30
Disease: Bone Diseases ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bone Diseases
CUI: C0005940
Disease: Bone Diseases
0.010 GeneticVariation BEFREE Patients presenting as children have an excess of compound heterozygotes of N370S and other mutations, such as 84GG, 1448C (L444P) and IVS2 + 1 in whom bone disease is common. 10087987 1998