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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.200 | 1 | 64840499 | intron variant | C/T | snv | 0.51 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.320 | 1 | 64837707 | intron variant | G/A | snv | 2.3E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.320 | 1 | 64837707 | intron variant | G/A | snv | 2.3E-02 |
|
Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 1 | 64887247 | intron variant | C/T | snv | 3.6E-02 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 64955388 | intron variant | G/C;T | snv |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1 | 65049850 | intron variant | A/G | snv | 5.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 65049850 | intron variant | A/G | snv | 5.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 1 | 64852824 | intron variant | C/T | snv | 0.12 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 64905735 | intron variant | C/T | snv | 5.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 65006640 | intron variant | A/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 64969742 | intron variant | C/G | snv | 0.18 |
|
Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 65063072 | intron variant | T/C;G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 64897943 | intron variant | A/C | snv |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||||||||
|
1 | 65066068 | intron variant | A/G | snv | 0.38 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 1 | 64895266 | intron variant | A/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 1 | 65058899 | intron variant | C/G;T | snv | 0.65 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 1 | 65058899 | intron variant | C/G;T | snv | 0.65 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2009 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 |