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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.280 | 6 | 70281033 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.280 | 6 | 70281033 | stop gained | G/A | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
6 | 70288860 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70286979 | intron variant | C/A;T | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70287089 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 70285583 | intron variant | C/A;T | snv | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 6 | 70240718 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 70293066 | intron variant | A/G | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70290093 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70297015 | intron variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70269490 | intron variant | C/T | snv | 0.49 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 70269490 | intron variant | C/T | snv | 0.49 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 70267100 | intron variant | G/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 70267100 | intron variant | G/T | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 70291111 | intron variant | C/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70299607 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70285266 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70289120 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70291666 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70293741 | intron variant | A/T | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 70296672 | intron variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.280 | 6 | 70281033 | stop gained | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 6 | 70255375 | stop gained | G/A;T | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.280 | 6 | 70274076 | missense variant | G/A;T | snv | 4.1E-06; 2.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.280 | 6 | 70274076 | missense variant | G/A;T | snv | 4.1E-06; 2.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |