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 |
rs121908571
|
1.000 |
|
2 |
218662620 |
missense variant |
G/A
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908573
|
1.000 |
|
2 |
218661762 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908574
|
1.000 |
|
2 |
218663183 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908575
|
1.000 |
|
2 |
218661120 |
missense variant |
C/G;T
|
snv
|
8.0E-06;
1.2E-05
|
|
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
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908580
|
1.000 |
|
2 |
218661135 |
missense variant |
A/G
|
snv
|
|
|
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, NUCLEAR TYPE 1
|
|
0.800 |
1.000 |
7 |
2001 |
2013 |
rs121908577
|
0.925 |
0.240 |
2 |
218661846 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
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 |
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 |
rs386833858
|
1.000 |
0.240 |
2 |
218662973 |
missense variant |
T/C
|
snv
|
|
|
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 |
rs587777278
|
1.000 |
0.200 |
2 |
218662894 |
missense variant |
T/A
|
snv
|
|
|
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 |
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
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 |
rs121908572
|
0.882 |
0.280 |
2 |
218661283 |
missense variant |
C/T
|
snv
|
|
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
|
|
0.700 |
1.000 |
7 |
2001 |
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 |
rs121908577
|
0.925 |
0.240 |
2 |
218661846 |
missense variant |
G/A
|
snv
|
1.6E-05
|
7.0E-06
|
Leigh Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2007 |
2015 |
rs1553597538
|
|
|
2 |
218662571 |
frameshift variant |
CT/-
|
delins
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
5 |
2001 |
2009 |
rs377025174
|
|
|
2 |
218661192 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
6.8E-05
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
5 |
2001 |
2009 |
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 |
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 |
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 |
rs121908579
|
0.925 |
0.200 |
2 |
218661090 |
missense variant |
G/C
|
snv
|
|
|
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 |
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 |
rs1457171169
|
1.000 |
0.200 |
2 |
218662897 |
missense variant |
C/A;G
|
snv
|
4.0E-06
|
|
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 |
rs1553598145
|
1.000 |
0.240 |
2 |
218663253 |
stop gained |
T/A
|
snv
|
|
|
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 |