Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1289324472
rs1289324472
GBA
CUI: C0600031
Disease: Congenital absence of spleen
Congenital absence of spleen 		0.010 GeneticVariation BEFREE Progression to severe, life-threatening PH occurs in the presence of additional genetic factors (non-N370S GBA mutation, positive family history, and ACE I gene polymorphism) and epigenetic modifiers (i.e., asplenia and female sex). 12359135

2003