Disease: 3-Methylglutaconic aciduria type 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28937899
rs28937899
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease:
3-Methylglutaconic aciduria type 3 		0.710 GeneticVariation BEFREE The recessive mode of inheritance of MGA type III as a result of the p.Q139X mutation is supported by the carrier status of the unaffected father. 18985435 2008
dbSNP: rs28937899
rs28937899
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease:
3-Methylglutaconic aciduria type 3 		A 0.710 GeneticVariation CLINVAR The recessive mode of inheritance of MGA type III as a result of the p.Q139X mutation is supported by the carrier status of the unaffected father. 18985435 2008
dbSNP: rs28937899
rs28937899
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease:
3-Methylglutaconic aciduria type 3 		A 0.710 CausalMutation CLINVAR