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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 17 | 42317209 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42317209 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42329423 | missense variant | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 17 | 42325038 | inframe deletion | CAC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42322407 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42333736 | missense variant | A/T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42333736 | missense variant | A/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 42333719 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 17 | 42329448 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42323120 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42323112 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
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 | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42317192 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 17 | 42382057 | intron variant | G/A | snv | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.120 | 17 | 42382057 | intron variant | G/A | snv | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
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 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 17 | 42347515 | intron variant | T/C | snv | 0.33 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 17 | 42355962 | intron variant | A/C | snv | 0.36 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 17 | 42313598 | 3 prime UTR variant | T/A;C | snv |
|
Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv |
|
Immune System Diseases | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.763 | 0.360 | 17 | 42313892 | 3 prime UTR variant | T/C | snv | 0.25 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 17 | 42313598 | 3 prime UTR variant | T/A;C | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv |
|
Pathological Conditions, Signs and Symptoms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.827 | 0.240 | 17 | 42329642 | missense variant | C/A;T | snv |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 |