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: 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: 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: 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: 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: 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: 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: 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: rs1553596761
rs1553596761 		1.000 0.240 2 218661546 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1553597934
rs1553597934 		1.000 0.240 2 218662999 splice donor variant TAGG/- 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