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

dbSNP: rs776936158
rs776936158
CP
T 0.700 CausalMutation CLINVAR New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients. 28012953

2017
dbSNP: rs1553759338
rs1553759338
CP
A 0.700 CausalMutation CLINVAR Does aceruloplasminemia modulate iron phenotype in thalassemia intermedia? 26777753

2016
dbSNP: rs1553759167
rs1553759167
CP
G 0.700 CausalMutation CLINVAR Movement disorders and brain iron overload in a new subtype of aceruloplasminemia. 25864092

2015
dbSNP: rs776936158
rs776936158
CP
T 0.700 CausalMutation CLINVAR Dominant mutants of ceruloplasmin impair the copper loading machinery in aceruloplasminemia. 19095659

2009
dbSNP: rs386134133
rs386134133
CP
T 0.700 CausalMutation CLINVAR Hepatic iron overload associated with a decreased serum ceruloplasmin level in a novel clinical type of aceruloplasminemia. 16831606

2006
dbSNP: rs386134147
rs386134147
CP
A 0.700 CausalMutation CLINVAR Molecular and pathological basis of aceruloplasminemia. 16629161

2006
dbSNP: rs386134155
rs386134155
CP
A 0.700 CausalMutation CLINVAR Molecular and pathological basis of aceruloplasminemia. 16629161

2006
dbSNP: rs776936158
rs776936158
CP
T 0.700 CausalMutation CLINVAR Molecular and pathological basis of aceruloplasminemia. 16629161

2006
dbSNP: rs386134125
rs386134125
CP
G 0.700 CausalMutation CLINVAR Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation. 15082597

2004
dbSNP: rs34394958
rs34394958
CP
C 0.700 CausalMutation CLINVAR A case of aceruloplasminaemia: abnormal serum ceruloplasmin protein without ferroxidase activity. 11909923

2002
dbSNP: rs776936158
rs776936158
CP
T 0.700 CausalMutation CLINVAR Consistent with these findings a missense mutation (G631R), resulting in aceruloplasminemia and predicted to alter the interactions at a single type I copper-binding site, results in the synthesis and secretion only of apoceruloplasmin. 12351628

2002
dbSNP: rs1064797073
rs1064797073
CP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401784
rs1135401784
CP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121909579
rs121909579
CP
T 0.700 CausalMutation CLINVAR

dbSNP: rs139633388
rs139633388
CP
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553761391
rs1553761391
CP
GCA 0.700 CausalMutation CLINVAR

dbSNP: rs1553762556
rs1553762556
CP
T 0.700 CausalMutation CLINVAR

dbSNP: rs1559935542
rs1559935542
CP
TC 0.700 CausalMutation CLINVAR

dbSNP: rs1559940237
rs1559940237
CP
T 0.700 CausalMutation CLINVAR

dbSNP: rs200683433
rs200683433
CP
G 0.700 CausalMutation CLINVAR

dbSNP: rs386134121
rs386134121
CP
A 0.700 CausalMutation CLINVAR

dbSNP: rs386134122
rs386134122
CP
C 0.700 CausalMutation CLINVAR

dbSNP: rs386134123
rs386134123
CP
G 0.700 CausalMutation CLINVAR