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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 21 | 34859485 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 9 | 1999 | 2017 | ||||||||
|
1.000 | 0.120 | 21 | 34880568 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 6 | 1999 | 2018 | ||||||||
|
0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 3 | 2012 | 2016 | ||||||||
|
1.000 | 0.120 | 21 | 35365944 | intron variant | G/A | snv | 0.65 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 2 | 2014 | 2019 | |||||||
|
21 | 35477121 | intron variant | A/T | snv | 2.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 |
|
Digestive System Diseases; Neoplasms | 0.720 | 1.000 | 3 | 2012 | 2019 | |||||||
|
0.827 | 0.120 | 21 | 34859486 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 1999 | 2017 | ||||||||
|
1.000 | 0.040 | 21 | 34880579 | missense variant | C/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 3 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 21 | 34886866 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 3 | 2002 | 2013 | ||||||||
|
1.000 | 0.040 | 21 | 34880580 | missense variant | C/T | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||||||
|
0.925 | 0.080 | 21 | 35092334 | intron variant | C/A;G | snv | 9.3E-02 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.120 | 21 | 34880598 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2009 | 2016 | ||||||||
|
0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.807 | 0.080 | 21 | 34835870 | intron variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
1.000 | 0.120 | 21 | 34880665 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2002 | 2013 | ||||||||
|
0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
0.827 | 0.120 | 21 | 34859486 | stop gained | G/A | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||||||
|
0.925 | 0.080 | 21 | 35092334 | intron variant | C/A;G | snv | 9.3E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 21 | 34866220 | intron variant | C/T | snv | 0.18 |
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
21 | 34966619 | intron variant | C/A;G;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 21 | 35801864 | intron variant | G/A | snv | 6.2E-03 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |