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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 18 | 70196537 | missense variant | A/C;G | snv | 1.6E-05; 3.1E-03 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 18 | 70196537 | missense variant | A/C;G | snv | 1.6E-05; 3.1E-03 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 18 | 70030114 | splice region variant | A/T | snv | 4.0E-06 |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.120 | 18 | 70166989 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 18 | 70166989 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.851 | 0.120 | 18 | 70166989 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.851 | 0.120 | 18 | 70166989 | missense variant | C/G;T | snv | 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 18 | 70054130 | splice donor variant | C/T | snv |
|
0.700 | 0 | |||||||||||||
|
1.000 | 18 | 70205267 | missense variant | C/T | snv | 2.4E-05 | 9.8E-05 |
|
0.700 | 0 | |||||||||||
|
18 | 70023957 | intron variant | G/A | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 70023957 | intron variant | G/A | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
18 | 70188842 | intron variant | G/A;T | snv | 5.5E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 18 | 70135273 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 18 | 70135273 | missense variant | T/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.925 | 0.120 | 18 | 70028797 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 18 | 70028797 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.120 | 18 | 70135176 | splice region variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 18 | 70135176 | splice region variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 18 | 70127695 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 18 | 70127695 | missense variant | T/G | snv |
|
0.700 | 0 |