Gene: COX2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
A 0.700 CausalMutation CLINVAR Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 20064630

2010
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
A 0.700 CausalMutation CLINVAR Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? 19718780

2009
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
A 0.700 CausalMutation CLINVAR Pure myopathy associated with a novel mitochondrial tRNA gene mutation. 16476954

2006
dbSNP: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
A 0.700 CausalMutation CLINVAR A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations. 16199753

2005
dbSNP: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
A 0.700 CausalMutation CLINVAR Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. 14605505

2003
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
C 0.700 CausalMutation CLINVAR Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. 10371545

1999
dbSNP: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
A 0.700 CausalMutation CLINVAR Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. 9778262

1998
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
A 0.700 CausalMutation CLINVAR Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). 8651277

1996
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
AC 0.700 CausalMutation CLINVAR Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. 7581383

1995
dbSNP: rs199474817
rs199474817
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
C 0.700 CausalMutation CLINVAR A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 7669057

1995
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
G 0.700 CausalMutation CLINVAR A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 8019558

1994
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
C 0.700 CausalMutation CLINVAR A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). 1361099

1992
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
G 0.700 CausalMutation CLINVAR Clinical spectrum of mitochondrial DNA mutation at base pair 8344. 1678125

1991
dbSNP: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
C 0.700 CausalMutation CLINVAR

dbSNP: rs200077222
rs200077222
TRNC ; COX1 ; COX2 ; ND2
C 0.700 CausalMutation CLINVAR