TICRR, TOPBP1 interacting checkpoint and replication regulator, 90381
N. diseases: 18; N. variants: 7
Source: ALL
Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 89604356 | intron variant | G/A | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
15 | 89594094 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.776 | 0.360 | 15 | 89629561 | stop gained | G/A;T | snv | 4.1E-06; 7.3E-05 |
|
0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 15 | 89630426 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.280 | 15 | 89630426 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.280 | 15 | 89630426 | missense variant | T/C | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 15 | 89629123 | splice acceptor variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 4 | 2009 | 2015 | ||||||||
|
1.000 | 0.080 | 15 | 89629527 | stop gained | G/A;C;T | snv | 2.0E-05; 3.2E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.700 | 1.000 | 3 | 2011 | 2015 | |||||||
|
1.000 | 0.120 | 15 | 89630403 | missense variant | G/A | snv | 4.2E-04 | 2.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases | 0.700 | 0 |