Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		0.800 0
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1857679
Disease: Sloping forehead
Sloping forehead 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C4025860
Disease: Hearing abnormality
Hearing abnormality 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0232744
Disease: Decreased liver function
Decreased liver function 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1859516
Disease: Episodic metabolic acidosis
Episodic metabolic acidosis 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1839437
Disease: Chronic lactic acidosis
Chronic lactic acidosis 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0027960
Disease: Nevus
Nevus 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C1844917
Disease: Intermittent lactic acidemia
Intermittent lactic acidemia 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0023380
Disease: Lethargy
Lethargy 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0575802
Disease: Small hand
Small hand 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C0151526
Disease: Premature Birth
Premature Birth 		0.700 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06
CUI: C4022765
Disease: Abnormality of the subarachnoid space
Abnormality of the subarachnoid space 		0.700 1.000 1 2018 2018