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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 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 | |||||||
|
0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.120 | 17 | 17816960 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 17 | 17816960 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 |
|
Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
17 | 17813217 | 3 prime UTR variant | A/G | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.040 | 17 | 17811708 | 3 prime UTR variant | C/A;T | snv | 4.3E-03; 7.4E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 17 | 17835546 | intron variant | G/A | snv | 3.8E-03 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 17 | 17830446 | intron variant | C/T | snv | 0.56 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
0.763 | 0.200 | 17 | 17811787 | splice region variant | G/A | snv | 0.45 | 0.33 |
|
Nervous System Diseases | 0.840 | 0.500 | 4 | 2011 | 2019 |