rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
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 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
1.000 |
2 |
2002 |
2011 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
Mitochondrial Diseases
|
Nutritional and Metabolic Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
Cholestasis
|
Digestive System Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
Ubiquinone dehydrogenase deficiency
|
|
0.010 |
1.000 |
1 |
2003 |
2003 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
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 |
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28937590
|
0.807 |
0.360 |
2 |
218661219 |
missense variant |
A/G
|
snv
|
4.7E-04
|
4.1E-04
|
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 |
|
|
rs121908576
|
0.851 |
0.360 |
2 |
218661153 |
stop gained |
C/T
|
snv
|
1.7E-04
|
2.9E-04
|
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 |
rs121908576
|
0.851 |
0.360 |
2 |
218661153 |
stop gained |
C/T
|
snv
|
1.7E-04
|
2.9E-04
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs121908576
|
0.851 |
0.360 |
2 |
218661153 |
stop gained |
C/T
|
snv
|
1.7E-04
|
2.9E-04
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
|
0 |
|
|
rs121908576
|
0.851 |
0.360 |
2 |
218661153 |
stop gained |
C/T
|
snv
|
1.7E-04
|
2.9E-04
|
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 |
|
|
rs121908578
|
0.882 |
0.200 |
2 |
218661848 |
missense variant |
C/T
|
snv
|
1.8E-04
|
1.0E-04
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908578
|
0.882 |
0.200 |
2 |
218661848 |
missense variant |
C/T
|
snv
|
1.8E-04
|
1.0E-04
|
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 |
rs121908578
|
0.882 |
0.200 |
2 |
218661848 |
missense variant |
C/T
|
snv
|
1.8E-04
|
1.0E-04
|
BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
|
|
0.700 |
|
0 |
|
|
rs144885874
|
0.925 |
0.040 |
2 |
218661845 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.7E-05
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs144885874
|
0.925 |
0.040 |
2 |
218661845 |
missense variant |
C/T
|
snv
|
1.2E-05
|
7.7E-05
|
MITOCHONDRIAL COMPLEX III DEFICIENCY (disorder)
|
Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs201454788
|
0.925 |
0.360 |
2 |
218662661 |
stop gained |
C/T
|
snv
|
2.0E-05
|
4.9E-05
|
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 |
rs201454788
|
0.925 |
0.360 |
2 |
218662661 |
stop gained |
C/T
|
snv
|
2.0E-05
|
4.9E-05
|
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 |
|
|
rs778769841
|
1.000 |
0.200 |
2 |
218661425 |
missense variant |
C/T
|
snv
|
8.4E-05;
4.0E-06
|
4.9E-05
|
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 |
rs140812286
|
1.000 |
|
2 |
218661204 |
missense variant |
C/G;T
|
snv
|
1.6E-04
|
4.9E-05
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
1.000 |
7 |
2001 |
2013 |
rs776838028
|
1.000 |
|
2 |
218661896 |
stop gained |
C/T
|
snv
|
4.0E-06
|
3.5E-05
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1280810181
|
1.000 |
0.200 |
2 |
218662910 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
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 |
rs386833857
|
1.000 |
0.240 |
2 |
218661516 |
missense variant |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
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 |
rs550497120
|
1.000 |
0.240 |
2 |
218663162 |
stop gained |
C/T
|
snv
|
1.2E-05
|
7.0E-06
|
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 |
|
|