Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386134124
rs386134124
CP
0.710 GeneticVariation BEFREE To elucidate the molecular pathogenesis of aceruloplasminemia, the biosynthesis of a missense mutant ceruloplasmin (P177R) occurring in an affected patient was examined. 11689569

2002
dbSNP: rs386134124
rs386134124
CP
C 0.710 CausalMutation CLINVAR