Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748620045
rs748620045
HIF1A ; HIF1A-AS3
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 GeneticVariation BEFREE They also suggest that the SQSTM1 P392L mutation plays a role in PDB pathogenesis, even at early preclinical stages in healthy carriers of the P392L mutation. 19925894

2010