rs757075712, TFAM

N. diseases: 15
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Conjugated hyperbilirubinemia
CUI: C0268307
Disease: Conjugated hyperbilirubinemia
1 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.710 1.000 1 2016 2016
Liver Failure
CUI: C0085605
Disease: Liver Failure
20 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.710 1.000 1 2016 2016
Abnormal mitochondrial morphology
CUI: C4014650
Disease: Abnormal mitochondrial morphology
1 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Ascites
CUI: C0003962
Disease: Ascites
7 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Cholestasis
CUI: C0008370
Disease: Cholestasis
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Deoxyguanosine Kinase Deficiency
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
1 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Depletion of mitochondrial DNA
CUI: C0342782
Disease: Depletion of mitochondrial DNA
7 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Fetal Growth Retardation
CUI: C0015934
Disease: Fetal Growth Retardation
21 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Fetus Small for Gestational Age
CUI: C1855652
Disease: Fetus Small for Gestational Age
2 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Hypertransaminasaemia
CUI: C2242708
Disease: Hypertransaminasaemia
1 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Hypoalbuminemia
CUI: C0239981
Disease: Hypoalbuminemia
9 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.700 0
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2016 2016