rs104894537
|
0.925 |
0.200 |
16 |
51141396 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.710 |
1.000 |
2 |
1999 |
2002 |
rs1555475319
|
1.000 |
0.200 |
16 |
51141264 |
stop gained |
G/A
|
snv
|
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
1999 |
2005 |
rs104894538
|
0.882 |
0.200 |
16 |
51141255 |
stop gained |
G/A
|
snv
|
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1064793257
|
1.000 |
0.200 |
16 |
51138807 |
frameshift variant |
AT/-
|
del
|
|
1.4E-05
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555475106
|
1.000 |
0.200 |
16 |
51139866 |
frameshift variant |
G/-
|
delins
|
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555475120
|
1.000 |
0.200 |
16 |
51139966 |
frameshift variant |
G/-
|
del
|
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555475275
|
1.000 |
0.200 |
16 |
51141007 |
frameshift variant |
-/G
|
delins
|
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555475334
|
1.000 |
0.200 |
16 |
51141356 |
stop gained |
A/T
|
snv
|
|
|
Townes syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|