Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119466000
rs119466000
LRPPRC
A 0.810 CausalMutation CLINVAR LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency. 21266382

2011
dbSNP: rs119466000
rs119466000
LRPPRC
A 0.810 CausalMutation CLINVAR Defects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complex. 17050673

2006
dbSNP: rs119466000
rs119466000
LRPPRC
0.810 GeneticVariation BEFREE The levels of COX (cytochrome c oxidase) I and COX III mRNA visible on Northern blots were reduced in LSFC patients due to the common (A354V, Ala354-->Val) founder mutation. 15139850

2004
dbSNP: rs119466000
rs119466000
LRPPRC
A 0.810 CausalMutation CLINVAR Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. 12529507

2003
dbSNP: rs119466000
rs119466000
LRPPRC
0.810 GeneticVariation UNIPROT