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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 141545795 | intron variant | C/T | snv | 0.68 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
5 | 141610541 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 5 | 141538221 | intron variant | T/C | snv | 0.68 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 5 | 141524167 | stop gained | G/A | snv |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
5 | 141592550 | intron variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders | 0.700 | 0 | |||||||||||
|
5 | 141604894 | intron variant | T/A | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 5 | 141582369 | stop gained | G/A;T | snv | 4.4E-05 | 5.6E-05 |
|
0.700 | 0 | |||||||||||
|
0.807 | 0.280 | 5 | 141573518 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 5 | 141529181 | frameshift variant | A/- | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 5 | 141528456 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 0.120 | 5 | 141573742 | missense variant | G/A;C;T | snv | 1.6E-05; 2.2E-05; 2.7E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.120 | 5 | 141573787 | missense variant | G/A;C | snv | 6.8E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.160 | 5 | 141524167 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |