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 |
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 |
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 |
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 |
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 |
|
|
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 |
|
|