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: rs121908571
rs121908571 		1.000 2 218662620 missense variant G/A 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: rs121908572
rs121908572 		0.882 0.280 2 218661283 missense variant C/T snv
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: rs121908573
rs121908573 		1.000 2 218661762 missense variant G/A;C snv 4.0E-06
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: 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: 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: 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: 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: 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: rs1457171169
rs1457171169 		1.000 0.200 2 218662897 missense variant C/A;G snv 4.0E-06
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: rs1553598145
rs1553598145 		1.000 0.240 2 218663253 stop gained T/A 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 0.700 1.000 2 2014 2016
dbSNP: rs386833858
rs386833858 		1.000 0.240 2 218662973 missense variant T/C 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 0.800 1.000 2 2002 2007
dbSNP: rs587777278
rs587777278 		1.000 0.200 2 218662894 missense variant T/A 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 0.800 1.000 2 2007 2013
dbSNP: rs1057516518
rs1057516518 		1.000 0.240 2 218662963 frameshift variant -/C 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 1.000 1 2009 2009
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: rs386833856
rs386833856 		1.000 0.240 2 218661308 splice donor variant G/C;T snv 4.0E-06; 1.2E-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 1.000 1 2002 2002
dbSNP: rs760559534
rs760559534 		1.000 0.240 2 218662608 frameshift variant C/-;CC delins 8.0E-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 2017 2017
dbSNP: rs1057516255
rs1057516255 		1.000 0.240 2 218661904 frameshift variant -/A 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: rs1057516346
rs1057516346 		1.000 0.240 2 218662680 splice donor variant G/A;T snv 8.0E-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: rs1057516786
rs1057516786 		1.000 0.240 2 218663369 frameshift variant AG/- 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: rs1057516802
rs1057516802 		1.000 0.240 2 218661954 splice donor variant G/A 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 0.700 0
dbSNP: rs1057516954
rs1057516954 		1.000 0.240 2 218661547 splice donor variant T/C snv 4.0E-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: rs1057521059
rs1057521059 		1.000 2 218661470 missense variant G/A snv
CUI: C3541471
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 		0.700 0
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: 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