Gene: GTPBP3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037734
rs886037734
GTPBP3
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs886037735
rs886037735
GTPBP3
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs886037734
rs886037734
GTPBP3
0.800 GeneticVariation UNIPROT Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004

2014
dbSNP: rs886037735
rs886037735
GTPBP3
0.800 GeneticVariation UNIPROT Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004

2014
dbSNP: rs730880255
rs730880255
GTPBP3
T 0.800 CausalMutation CLINVAR

dbSNP: rs730880255
rs730880255
GTPBP3
0.800 GeneticVariation UNIPROT

dbSNP: rs886037734
rs886037734
GTPBP3
A 0.800 CausalMutation CLINVAR

dbSNP: rs886037735
rs886037735
GTPBP3
C 0.800 CausalMutation CLINVAR

dbSNP: rs373370177
rs373370177
GTPBP3
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016
dbSNP: rs373370177
rs373370177
GTPBP3
0.700 GeneticVariation UNIPROT Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. 25434004

2014
dbSNP: rs1057518138
rs1057518138
GTPBP3
0.700 GeneticVariation UNIPROT

dbSNP: rs1274363168
rs1274363168
GTPBP3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555726849
rs1555726849
GTPBP3
T 0.700 CausalMutation CLINVAR

dbSNP: rs372174278
rs372174278
GTPBP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs770871640
rs770871640
GTPBP3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs774708853
rs774708853
GTPBP3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs869320746
rs869320746
GTPBP3
AC 0.700 CausalMutation CLINVAR

dbSNP: rs886037736
rs886037736
GTPBP3
GTG 0.700 CausalMutation CLINVAR