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: 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: 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: 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: rs121908574
rs121908574 		1.000 2 218663183 missense variant G/A snv 1.6E-05 7.0E-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: rs121908578
rs121908578 		0.882 0.200 2 218661848 missense variant C/T snv 1.8E-04 1.0E-04
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: 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: rs121908577
rs121908577 		0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-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 0.800 1.000 2 2007 2013
dbSNP: rs386833857
rs386833857 		1.000 0.240 2 218661516 missense variant G/A snv 4.0E-06 1.4E-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 0.800 1.000 2 2002 2007
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: 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: 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: 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: rs121908577
rs121908577 		0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 5 2007 2015
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: 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: 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: rs1280810181
rs1280810181 		1.000 0.200 2 218662910 missense variant G/A snv 1.4E-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: 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