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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 689437 | intron variant | C/T | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
18 | 714118 | upstream gene variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2009 | 2012 | |||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
Neoplasms | 0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2009 | 2012 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.020 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||||
|
0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.882 | 0.120 | 18 | 676008 | intron variant | G/C | snv | 0.63 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2018 | |||||||
|
0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 18 | 676789 | intron variant | A/T | snv | 0.15 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 18 | 672792 | 3 prime UTR variant | C/T | snv | 0.40 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Eye Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |