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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 6 | 31573570 | synonymous variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 6 | 31575804 | frameshift variant | AG/- | del |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 31575843 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 |
|
Infections; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 6 | 31576538 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.882 | 0.080 | 6 | 31577184 | missense variant | G/A;T | snv | 1.6E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 6 | 31577184 | missense variant | G/A;T | snv | 1.6E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.882 | 0.080 | 6 | 31577184 | missense variant | G/A;T | snv | 1.6E-05 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 31576808 | missense variant | G/A | snv | 4.1E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.120 | 6 | 31576785 | missense variant | C/G;T | snv | 2.6E-03 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.160 | 6 | 31577126 | synonymous variant | A/G | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Behavior and Behavior Mechanisms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Infections; Immune System Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Infections | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.200 | 6 | 31577481 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.240 | 6 | 31575788 | missense variant | C/G;T | snv | 4.1E-06; 1.6E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |