rs867410737, ATP5F1D

N. diseases: 45
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.
Acute encephalopathy
CUI: C1306587
Disease: Acute encephalopathy
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
Oxidative Phosphorylation Deficiencies
1 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
Abnormality of the subarachnoid space
4 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Acute hyperammonemia
CUI: C1859506
Disease: Acute hyperammonemia
1 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Chronic lactic acidosis
CUI: C1839437
Disease: Chronic lactic acidosis
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Decreased activity of mitochondrial ATP synthase complex
1 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Decreased liver function
CUI: C0232744
Disease: Decreased liver function
5 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Echocardiogram abnormal
CUI: C0476369
Disease: Echocardiogram abnormal
1 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Episodic metabolic acidosis
CUI: C1859516
Disease: Episodic metabolic acidosis
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Exercise-induced muscle fatigue
CUI: C1855580
Disease: Exercise-induced muscle fatigue
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Hearing abnormality
CUI: C4025860
Disease: Hearing abnormality
5 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Heart murmur
CUI: C0018808
Disease: Heart murmur
10 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Intermittent lactic acidemia
CUI: C1844917
Disease: Intermittent lactic acidemia
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Left-Sided Heart Failure
CUI: C0023212
Disease: Left-Sided Heart Failure
5 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Lethargy
CUI: C0023380
Disease: Lethargy
6 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Mongolian Spot
CUI: C0265985
Disease: Mongolian Spot
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018