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 |
rs1015438
|
|
|
16 |
51143606 |
intron variant |
G/A
|
snv
|
|
0.19
|
mathematical ability
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs104894537
|
0.925 |
0.200 |
16 |
51141396 |
stop gained |
G/A;T
|
snv
|
1.2E-05
|
|
TOWNES-BROCKS SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs116971887
|
|
|
16 |
51136115 |
3 prime UTR variant |
G/T
|
snv
|
|
3.1E-02
|
C-reactive protein measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs116971887
|
|
|
16 |
51136115 |
3 prime UTR variant |
G/T
|
snv
|
|
3.1E-02
|
Red Blood Cell Count measurement
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs12924434
|
|
|
16 |
51151047 |
non coding transcript exon variant |
T/C
|
snv
|
|
0.27
|
mathematical ability
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1965024
|
|
|
16 |
51139648 |
synonymous variant |
G/A;T
|
snv
|
0.63;
6.4E-05
|
|
C-reactive protein measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs864621971
|
1.000 |
0.200 |
16 |
51141273 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
TOWNES-BROCKS SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs104894535
|
1.000 |
0.200 |
16 |
51141107 |
stop gained |
G/C;T
|
snv
|
|
|
TOWNES-BROCKS SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894538
|
0.882 |
0.200 |
16 |
51141255 |
stop gained |
G/A
|
snv
|
|
|
Townes-Brocks-Branchiootorenal-Like Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
rs104894538
|
0.882 |
0.200 |
16 |
51141255 |
stop gained |
G/A
|
snv
|
|
|
TOWNES-BROCKS SYNDROME 1
|
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 |
|
|
rs1085307143
|
1.000 |
0.200 |
16 |
51141113 |
frameshift variant |
AC/-
|
del
|
|
|
TOWNES-BROCKS SYNDROME 1
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs137853084
|
1.000 |
0.200 |
16 |
51140966 |
stop gained |
A/T
|
snv
|
8.0E-06
|
|
TOWNES-BROCKS SYNDROME 1
|
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 |
|
|