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 | 109703431 | intron variant | G/A;T | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2003 | 2017 | |||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2003 | 2017 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2008 | 2017 | |||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2001 | 2013 | |||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2001 | 2013 | |||||||
|
0.662 | 0.640 | 1 | 109689278 | missense variant | A/G | snv | 1.5E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2001 | 2013 | |||||||
|
0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.160 | 1 | 109687896 | stop gained | G/A | snv | 1.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
1 | 109688179 | missense variant | G/A | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.882 | 0.120 | 1 | 109688224 | missense variant | A/G | snv | 3.0E-05 | 3.8E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1.000 | 0.080 | 1 | 109686818 | intron variant | GT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Respiratory Tract Diseases; Occupational Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.752 | 0.360 | 1 | 109688180 | missense variant | C/T | snv | 4.8E-04 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |