STAT3, signal transducer and activator of transcription 3, 6774
N. diseases: 1193; N. variants: 57
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
Digestive System Diseases | 0.870 | 1.000 | 8 | 2008 | 2016 | |||||||
|
0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 |
|
Immune System Diseases; Nervous System Diseases | 0.820 | 1.000 | 2 | 2010 | 2012 | |||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
Digestive System Diseases | 0.810 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 17 | 42322413 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 7 | 2007 | 2016 | ||||||||
|
1.000 | 0.120 | 17 | 42329621 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 4 | 2007 | 2016 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||||||
|
0.925 | 0.120 | 17 | 42316899 | missense variant | G/A | snv |
|
0.800 | 1.000 | 3 | 2014 | 2017 | |||||||||
|
0.925 | 0.120 | 17 | 42329612 | missense variant | T/C | snv |
|
0.800 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
1.000 | 17 | 42322445 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 2014 | 2017 | |||||||||
|
1.000 | 17 | 42322409 | missense variant | C/G | snv |
|
0.800 | 1.000 | 2 | 2014 | 2017 | ||||||||||
|
0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 |
|
Immune System Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
Immune System Diseases; Nervous System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
17 | 42317182 | missense variant | G/A;C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 11 | 2007 | 2018 | ||||||||||
|
0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 2007 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 42329643 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 2007 | 2014 | ||||||||
|
0.925 | 0.120 | 17 | 42329643 | missense variant | G/A | snv |
|
0.700 | 1.000 | 6 | 2007 | 2014 | |||||||||
|
0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 2007 | 2016 | ||||||||
|
0.925 | 0.120 | 17 | 42322474 | missense variant | C/T | snv |
|
0.700 | 1.000 | 5 | 2007 | 2016 | |||||||||
|
0.925 | 0.120 | 17 | 42322404 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 42322404 | missense variant | A/G | snv |
|
0.700 | 1.000 | 4 | 2010 | 2018 | |||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 3 | 2015 | 2017 | ||||||||
|
0.925 | 0.120 | 17 | 42322413 | missense variant | T/C | snv |
|
0.700 | 1.000 | 3 | 2009 | 2013 | |||||||||
|
1.000 | 0.120 | 17 | 42323039 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||||||
|
1.000 | 0.120 | 17 | 42329457 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2008 | 2012 |