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 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
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
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
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
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
2 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.800 0
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
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
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
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
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
Warts
CUI: C3665596
Disease: Warts
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 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
Thickened nuchal skin fold
CUI: C1836940
Disease: Thickened nuchal skin fold
4 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
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
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
Sloping forehead
CUI: C1857679
Disease: Sloping forehead
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
Nasogastric tube feeding in infancy
CUI: C4023343
Disease: Nasogastric tube feeding in infancy
9 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
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Short palm
CUI: C1843108
Disease: Short palm
13 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018