Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777016
rs587777016
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.800 GeneticVariation UNIPROT Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. 23462291 2013
dbSNP: rs587777016
rs587777016
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1053773776
rs1053773776
Entrez Id: 200205;574432
Gene Symbol: IBA57;IBA57-DT
IBA57;IBA57-DT
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1261081427
rs1261081427
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1298056442
rs1298056442
Entrez Id: 200205;574432
Gene Symbol: IBA57;IBA57-DT
IBA57;IBA57-DT
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553264669
rs1553264669
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1553264725
rs1553264725
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1553264773
rs1553264773
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs73095427
rs73095427
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs765132163
rs765132163
Entrez Id: 200205;574432
Gene Symbol: IBA57;IBA57-DT
IBA57;IBA57-DT
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		A 0.700 CausalMutation CLINVAR
dbSNP: rs765926471
rs765926471
Entrez Id: 200205;574432
Gene Symbol: IBA57;IBA57-DT
IBA57;IBA57-DT
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs769063859
rs769063859
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		T 0.700 CausalMutation CLINVAR
dbSNP: rs781627051
rs781627051
Entrez Id: 200205;574432
Gene Symbol: IBA57;IBA57-DT
IBA57;IBA57-DT
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		C 0.700 CausalMutation CLINVAR
dbSNP: rs876657407
rs876657407
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C4225322
Disease:
SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE 		G 0.700 CausalMutation CLINVAR