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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 18344048 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 18360257 | intron variant | C/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2010 | 2015 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2010 | 2015 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms | 0.040 | 0.500 | 4 | 2014 | 2018 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms | 0.040 | 0.500 | 4 | 2014 | 2018 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.030 | 1.000 | 3 | 2001 | 2017 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
0.030 | 1.000 | 3 | 2002 | 2012 | |||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2013 | 2014 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Cardiovascular Diseases | 0.020 | 0.500 | 2 | 2005 | 2011 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Neoplasms; Male Urogenital Diseases | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||||
|
0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 |
|
Nervous System Diseases | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||||
|
17 | 18340813 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 18340813 | missense variant | C/T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 17 | 18341299 | non coding transcript exon variant | T/A;C;G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||||
|
17 | 18333280 | missense variant | C/T | snv | 8.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
17 | 18333280 | missense variant | C/T | snv | 8.1E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.120 | 17 | 18340207 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.120 | 17 | 18340762 | missense variant | G/A | snv | 6.4E-04 | 8.8E-04 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |