Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype. 30236074

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR CO2-sensitive tRNA modification associated with human mitochondrial disease. 29760464

2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset. 22638997

2012
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
G 0.700 CausalMutation CLINVAR Mitochondrial disorder associated with newborn cardiopulmonary arrest. 8511015

1993
dbSNP: rs146539065
rs146539065
SEPSECS
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555155556
rs1555155556
BORCS5
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569355102
rs1569355102
DYRK1A
T 0.700 CausalMutation CLINVAR

dbSNP: rs387907145
rs387907145
ROGDI
A 0.700 CausalMutation CLINVAR

dbSNP: rs776969714
rs776969714
SEPSECS
GC 0.700 CausalMutation CLINVAR

dbSNP: rs782596945
rs782596945
ATP2B3
T 0.700 CausalMutation CLINVAR

dbSNP: rs786205124
rs786205124
ROGDI
CGG 0.700 CausalMutation CLINVAR