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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Hemic and Lymphatic Diseases | 0.900 | 0.900 | 20 | 2010 | 2020 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Digestive System Diseases; Infections | 0.850 | 0.833 | 6 | 2010 | 2020 | |||||||
|
1.000 | 0.080 | 20 | 3207087 | upstream gene variant | T/C | snv | 8.6E-02 |
|
Digestive System Diseases; Infections | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 |
|
Digestive System Diseases; Infections | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 20 | 3223409 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 20 | 3218525 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 20 | 3215286 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 20 | 3218578 | frameshift variant | -/TCAGCACC | delins | 3.5E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 20 | 3213171 | frameshift variant | -/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 20 | 3221881 | stop gained | G/A | snv | 5.6E-05 | 1.4E-05 |
|
0.700 | 0 | |||||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Digestive System Diseases; Infections | 0.100 | 0.900 | 10 | 2011 | 2018 | |||||||
|
0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 |
|
Hemic and Lymphatic Diseases | 0.070 | 0.857 | 7 | 2011 | 2018 | ||||||
|
0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 |
|
Digestive System Diseases; Infections | 0.070 | 1.000 | 7 | 2011 | 2018 | ||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Hemic and Lymphatic Diseases | 0.040 | 0.750 | 4 | 2012 | 2017 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2010 | 2015 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2009 | 2012 | |||||||
|
0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 |
|
Hemic and Lymphatic Diseases | 0.030 | 1.000 | 3 | 2012 | 2013 | ||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.020 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2006 | 2015 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2013 | 2019 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
0.020 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |