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 | ||||||||
|
17 | 42236412 | intron variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
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 | ||||||||
|
1.000 | 0.120 | 17 | 42223478 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42216066 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42216066 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42216066 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.120 | 17 | 42216066 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 17 | 42216066 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 0 |