SREBF1, sterol regulatory element binding transcription factor 1, 6720
N. diseases: 159; N. variants: 12
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2007 | 2008 | |||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 17 | 17831426 | intron variant | G/A | snv | 0.45 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.925 | 0.080 | 17 | 17831426 | intron variant | G/A | snv | 0.45 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2006 | 2008 | |||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 17 | 17831426 | intron variant | G/A | snv | 0.45 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 17 | 17816675 | missense variant | C/T | snv | 6.4E-03 | 1.9E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.882 | 0.120 | 17 | 17816675 | missense variant | C/T | snv | 6.4E-03 | 1.9E-02 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.882 | 0.120 | 17 | 17816675 | missense variant | C/T | snv | 6.4E-03 | 1.9E-02 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 17 | 17816960 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.080 | 17 | 17818143 | non coding transcript exon variant | A/G | snv | 0.71 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 17 | 17820149 | missense variant | G/A | snv | 2.4E-05 | 1.4E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.790 | 0.240 | 17 | 17812003 | synonymous variant | C/G;T | snv | 0.50; 7.5E-05 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.010 | 1.000 | 1 | 2014 | 2014 |