rs886037734
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs886037735
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs886037734
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs886037735
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs730880255
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T
0.800
CausalMutation
CLINVAR
rs730880255
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800
GeneticVariation
UNIPROT
rs886037734
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
A
0.800
CausalMutation
CLINVAR
rs886037735
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
C
0.800
CausalMutation
CLINVAR
rs373370177
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs373370177
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs1057518138
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700
GeneticVariation
UNIPROT
rs1274363168
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T
0.700
GeneticVariation
CLINVAR
rs1555726849
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T
0.700
CausalMutation
CLINVAR
rs372174278
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
C
0.700
CausalMutation
CLINVAR
rs770871640
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
C
0.700
GeneticVariation
CLINVAR
rs774708853
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
T
0.700
GeneticVariation
CLINVAR
rs869320746
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
AC
0.700
CausalMutation
CLINVAR
rs886037736
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
GTG
0.700
CausalMutation
CLINVAR
rs1864112
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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
rs1864112
×
Entrez Id:
84705
Gene Symbol:
GTPBP3
GTPBP3
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