Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886037734
rs886037734
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs886037735
rs886037735
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs886037734
rs886037734
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
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
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
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
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T 0.800 CausalMutation CLINVAR
dbSNP: rs730880255
rs730880255
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800 GeneticVariation UNIPROT
dbSNP: rs886037734
rs886037734
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
A 0.800 CausalMutation CLINVAR
dbSNP: rs886037735
rs886037735
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
C 0.800 CausalMutation CLINVAR
dbSNP: rs373370177
rs373370177
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs373370177
rs373370177
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
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
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 GeneticVariation UNIPROT
dbSNP: rs1274363168
rs1274363168
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1555726849
rs1555726849
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T 0.700 CausalMutation CLINVAR
dbSNP: rs372174278
rs372174278
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
C 0.700 CausalMutation CLINVAR
dbSNP: rs770871640
rs770871640
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
C 0.700 GeneticVariation CLINVAR
dbSNP: rs774708853
rs774708853
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T 0.700 GeneticVariation CLINVAR
dbSNP: rs869320746
rs869320746
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
AC 0.700 CausalMutation CLINVAR
dbSNP: rs886037736
rs886037736
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C4015447
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
GTG 0.700 CausalMutation CLINVAR
dbSNP: rs1864112
rs1864112
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. 24325915 2014
dbSNP: rs1864112
rs1864112
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Further, two SNPs independent of previously reported signals in ESR1 [rs12525163 odds ratio (OR) = 1.15, P = 4.9 × 10(-) (4)] and 19p13.1 (rs1864112 OR = 0.84, P = 1.8 × 10(-) (9)) were associated with TN breast cancer. 24325915 2014