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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 222245793 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 222268789 | intron variant | C/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 222204906 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.040 | 2 | 222272221 | intron variant | G/A | snv | 4.1E-02 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.040 | 2 | 222272221 | intron variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 222299799 | intron variant | A/G | snv | 0.16 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.080 | 2 | 222217612 | intron variant | C/T | snv | 0.46 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 222235804 | intron variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.882 | 0.040 | 2 | 222202200 | intron variant | C/G;T | snv | 0.11; 2.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 2 | 222202200 | intron variant | C/G;T | snv | 0.11; 2.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 2 | 222202200 | intron variant | C/G;T | snv | 0.11; 2.6E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 2 | 222297305 | intron variant | T/G | snv | 0.85 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 2 | 222297305 | intron variant | T/G | snv | 0.85 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.040 | 2 | 222297305 | intron variant | T/G | snv | 0.85 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 2 | 222205957 | intron variant | C/T | snv | 7.5E-02 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 2 | 222294310 | intron variant | G/A;T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 222232080 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 2 | 222297089 | stop gained | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 222202134 | stop gained | G/A;C | snv | 2.8E-05 | 2.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 2 | 222220292 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 222202087 | stop gained | G/A;C;T | snv | 2.0E-05; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 222297053 | stop gained | G/A;C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 2 | 222295564 | stop gained | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 222232086 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 2 | 222297150 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 20 | 1992 | 2014 |