CREB3L1, cAMP responsive element binding protein 3 like 1, 90993
N. diseases: 88; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 46276080 | upstream gene variant | A/C | snv | 0.57 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
11 | 46306017 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 46279171 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 46294028 | intron variant | T/C | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 11 | 46311342 | intron variant | T/G | snv | 0.27 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 11 | 46303284 | intron variant | C/G | snv | 0.59 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
11 | 46279704 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
11 | 46321284 | 3 prime UTR variant | A/C | snv | 0.46 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 11 | 46309432 | intron variant | T/G | snv | 0.22 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.040 | 11 | 46301658 | intron variant | G/A | snv | 0.32 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 11 | 46301658 | intron variant | G/A | snv | 0.32 |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins |
|
Nutritional and Metabolic Diseases; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 11 | 46320289 | stop gained | C/A;T | snv | 4.1E-06 | 2.1E-05 |
|
0.700 | 0 |