CDKAL1, CDK5 regulatory subunit associated protein 1 like 1, 54901
N. diseases: 42; N. variants: 21
Source: BEFREE ×
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 6 | 20716864 | intron variant | A/G | snv | 0.31 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 20887723 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.925 | 0.120 | 6 | 21065218 | missense variant | C/A;G;T | snv | 8.2E-06; 6.4E-02 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.120 | 6 | 21065218 | missense variant | C/A;G;T | snv | 8.2E-06; 6.4E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 20725192 | intron variant | G/C | snv | 0.34 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 6 | 20740065 | intron variant | C/T | snv | 0.38 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.120 | 6 | 20685255 | intron variant | T/C | snv | 0.42 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.120 | 6 | 20685255 | intron variant | T/C | snv | 0.42 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 20599397 | intron variant | C/T | snv | 0.39 | 0.33 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.080 | 6 | 20533152 | upstream gene variant | G/T | snv | 0.23 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.080 | 6 | 20533152 | upstream gene variant | G/T | snv | 0.23 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 |