rs76763715, GBA

N. diseases: 27
Disease: Osteoporosis ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.010 GeneticVariation BEFREE Some N370S homozygotes exhibited more severe clinical manifestations: 9% (29/327) had severe thrombocytopenia; 3% (5/190) had severe hepatomegaly; 11% (22/194) had severe splenomegaly; 7% (18/255) reported bone crises; 11% (8/70) had osteoporosis. 18979180 2008