Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs144885874
rs144885874 		0.925 0.040 2 218661845 missense variant C/T snv 1.2E-05 7.7E-05
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.800 1.000 7 2001 2013
dbSNP: rs121908572
rs121908572 		0.882 0.280 2 218661283 missense variant C/T snv
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 4 2001 2014
dbSNP: rs121908576
rs121908576 		0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2002 2012
dbSNP: rs201454788
rs201454788 		0.925 0.360 2 218662661 stop gained C/T snv 2.0E-05 4.9E-05
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2007 2015
dbSNP: rs121908578
rs121908578 		0.882 0.200 2 218661848 missense variant C/T snv 1.8E-04 1.0E-04
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2007 2013
dbSNP: rs778769841
rs778769841 		1.000 0.200 2 218661425 missense variant C/T snv 8.4E-05; 4.0E-06 4.9E-05
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2007 2013
dbSNP: rs121908572
rs121908572 		0.882 0.280 2 218661283 missense variant C/T snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs144885874
rs144885874 		0.925 0.040 2 218661845 missense variant C/T snv 1.2E-05 7.7E-05
CUI: C1852372
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder) 		Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs776838028
rs776838028 		1.000 2 218661896 stop gained C/T snv 4.0E-06 3.5E-05
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 1.000 1 2017 2017
dbSNP: rs779331797
rs779331797 		1.000 0.240 2 218661854 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121908572
rs121908572 		0.882 0.280 2 218661283 missense variant C/T snv
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908576
rs121908576 		0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121908576
rs121908576 		0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 0
dbSNP: rs121908576
rs121908576 		0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121908578
rs121908578 		0.882 0.200 2 218661848 missense variant C/T snv 1.8E-04 1.0E-04
CUI: C4016851
Disease: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY 		0.700 0
dbSNP: rs201454788
rs201454788 		0.925 0.360 2 218662661 stop gained C/T snv 2.0E-05 4.9E-05
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs369691608
rs369691608 		1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C1837770
Disease: Sparse hair
Sparse hair 		0.700 0
dbSNP: rs369691608
rs369691608 		1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs369691608
rs369691608 		1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 0
dbSNP: rs369691608
rs369691608 		1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs369691608
rs369691608 		1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs550497120
rs550497120 		1.000 0.240 2 218663162 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553597538
rs1553597538 		2 218662571 frameshift variant CT/- delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2001 2009
dbSNP: rs1363475546
rs1363475546 		1.000 0.240 2 218662561 frameshift variant G/- delins
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1553596929
rs1553596929 		1.000 0.240 2 218661770 frameshift variant G/- del
CUI: C1864002
Disease: GRACILE SYNDROME (disorder)
GRACILE SYNDROME (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0