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 | 2 | 237333533 | missense variant | G/A;C | snv | 1.2E-05; 8.2E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
2 | 237369499 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 2 | 237344516 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 2 | 237334727 | missense variant | C/T | snv | 1.1E-03 | 3.6E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
2 | 237428159 | upstream gene variant | T/C;G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 237414242 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 2 | 237344358 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 |
|
0.700 | 0 | |||||||||||
|
2 | 237361150 | stop gained | G/A | snv |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||||
|
1.000 | 0.080 | 2 | 237378714 | missense variant | C/T | snv | 2.6E-02 | 1.1E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.882 | 0.080 | 2 | 237324840 | intron variant | G/A | snv | 0.29 | 0.26 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.080 | 2 | 237324840 | intron variant | G/A | snv | 0.29 | 0.26 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.080 | 2 | 237324840 | intron variant | G/A | snv | 0.29 | 0.26 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.080 | 2 | 237361902 | intron variant | T/C | snv | 6.2E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 237361902 | intron variant | T/C | snv | 6.2E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 237361902 | intron variant | T/C | snv | 6.2E-02 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 237324168 | 3 prime UTR variant | T/A | snv | 0.10 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 237324168 | 3 prime UTR variant | T/A | snv | 0.10 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 2 | 237324168 | 3 prime UTR variant | T/A | snv | 0.10 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.120 | 2 | 237359205 | splice donor variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 13 | 2001 | 2016 | ||||||||
|
1.000 | 0.120 | 2 | 237369064 | missense variant | T/C | snv | 5.1E-04 | 3.0E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1998 | 2010 | ||||||
|
1.000 | 0.120 | 2 | 237379103 | missense variant | C/A;T | snv | 8.0E-06; 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1998 | 2010 | |||||||
|
1.000 | 0.120 | 2 | 237361138 | missense variant | C/G;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1994 | 2017 | ||||||||
|
1.000 | 0.120 | 2 | 237360158 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1993 | 2013 | ||||||||
|
1.000 | 0.120 | 2 | 237360150 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1994 | 2013 | ||||||||
|
1.000 | 0.120 | 2 | 237336278 | missense variant | G/A | snv | 3.9E-03 | 1.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 1998 | 2007 |