Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1289324472
rs1289324472
GBA
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 GeneticVariation BEFREE In the subgroup of 29 patients who were on stable ERT for at least 24 months, further to splenectomy, GD severity and non-N370S GBA1 genotypes, also diastolic blood pressure, BMI and the number of metabolic syndrome (MetS) components emerged as factors significantly associated with significant fibrosis. 30115580

2018