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: rs1553595997
rs1553595997 		1.000 0.240 2 218661040 frameshift variant C/- 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
dbSNP: rs121908579
rs121908579 		0.925 0.200 2 218661090 missense variant G/C snv
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: rs121908579
rs121908579 		0.925 0.200 2 218661090 missense variant G/C snv
CUI: C4016851
Disease: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY 		0.700 0
dbSNP: rs121908575
rs121908575 		1.000 2 218661120 missense variant C/G;T snv 8.0E-06; 1.2E-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: rs121908580
rs121908580 		1.000 2 218661135 missense variant A/G snv
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: 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: 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: rs377025174
rs377025174 		2 218661192 missense variant C/A;T snv 4.0E-06; 6.8E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 5 2001 2009
dbSNP: rs140812286
rs140812286 		1.000 2 218661204 missense variant C/G;T snv 1.6E-04 4.9E-05
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 1.000 7 2001 2013
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-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 0.820 1.000 4 2002 2015
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 1.000 2 2002 2011
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C0008370
Disease: Cholestasis
Cholestasis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		0.010 1.000 1 2003 2003
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-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: rs28937590
rs28937590 		0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-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: rs749196764
rs749196764 		1.000 0.240 2 218661232 stop gained C/A;T snv 4.0E-06; 1.6E-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