TIA1, TIA1 cytotoxic granule associated RNA binding protein, 7072
N. diseases: 96; N. variants: 9
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 2 | 70212730 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.810 | 1.000 | 5 | 1999 | 2017 | ||||||
|
0.925 | 0.120 | 2 | 70212763 | missense variant | T/C;G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 70212763 | missense variant | T/C;G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 70231632 | intron variant | A/T | snv | 9.7E-03 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 2 | 70214484 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 2 | 70212796 | missense variant | G/A | snv | 8.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 2 | 70212796 | missense variant | G/A | snv | 8.0E-06 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 2 | 70212796 | missense variant | G/A | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 70214643 | intron variant | A/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 2 | 70245350 | intron variant | G/A | snv | 0.27 |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 70244767 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 70244767 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.120 | 2 | 70212795 | missense variant | G/A | snv | 2.0E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.120 | 2 | 70212795 | missense variant | G/A | snv | 2.0E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 |