Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516062
rs1057516062
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
C 0.700 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978

2017

dbSNP: rs672601368
rs672601368
T 0.700 CausalMutation CLINVAR De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome. 26486474

2016

dbSNP: rs1555462347
rs1555462347
G 0.700 GeneticVariation CLINVAR

dbSNP: rs201650281
rs201650281
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515508
rs397515508
ND1 ; ND2
A 0.700 CausalMutation CLINVAR

dbSNP: rs727502810
rs727502810
TUB ; RIC3
T 0.700 CausalMutation CLINVAR

dbSNP: rs772410450
rs772410450
C 0.700 CausalMutation CLINVAR

dbSNP: rs138350727
rs138350727
0.010 GeneticVariation BEFREE A new c.740G>A (R247H) mutation in OPA1 alternate spliced exon 5b was found in a patient presenting with bilateral optic neuropathy followed by partial, spontaneous visual recovery. 18360822

2008