STAT5B, signal transducer and activator of transcription 5B, 6777
N. diseases: 357; N. variants: 14
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.240 | 17 | 42210189 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.800 | 1.000 | 3 | 2003 | 2012 | ||||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2007 | 2015 | |||||||
|
0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2007 | 2015 | |||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.200 | 17 | 42232124 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.200 | 17 | 42232124 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
17 | 42236412 | intron variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.240 | 17 | 42210189 | missense variant | C/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 17 | 42224855 | missense variant | C/T | snv | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 |
|
Infections; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | 17 | 42242072 | intron variant | C/T | snv | 0.26 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
17 | 42262844 | intron variant | A/G | snv | 0.33 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 42218218 | frameshift variant | G/-;GG | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 17 | 42238611 | intron variant | G/A;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.160 | 17 | 42207711 | missense variant | T/G | snv | 7.0E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |