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: rs1555745989
rs1555745989
ATP5F1D
0.925 0.040 19 1244118 missense variant T/G snv
CUI: C4748269
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 		0.800 1.000 0 2018 2018
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: rs1555745989
rs1555745989
ATP5F1D
0.925 0.040 19 1244118 missense variant T/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.710 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
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: C1837142
Disease: Poor suck
Poor suck 		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: 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: C1843108
Disease: Short palm
Short palm 		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: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		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: 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: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		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: 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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		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: C3665596
Disease: Warts
Warts 		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: 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: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		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: 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: C0265985
Disease: Mongolian Spot
Mongolian Spot 		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: C0476369
Disease: Echocardiogram abnormal
Echocardiogram abnormal 		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