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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 6 | 20687890 | intron variant | T/A;G | snv | 0.26 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 2 | 2010 | 2019 | |||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 1.000 | 10 | 2007 | 2019 | |||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 6 | 21072798 | intron variant | G/A | snv | 0.38 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 6 | 20694653 | intron variant | C/T | snv | 0.20 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.160 | 6 | 20694653 | intron variant | C/T | snv | 0.20 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 6 | 20682391 | intron variant | T/C | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2016 | 2019 | |||||||
|
0.925 | 0.120 | 6 | 20657333 | intron variant | A/G | snv | 0.41 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.830 | 1.000 | 3 | 2009 | 2019 | |||||||
|
0.925 | 0.120 | 6 | 20657634 | intron variant | A/G | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 2 | 2008 | 2019 | |||||||
|
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 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
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 | |||||||
|
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 | |||||||
|
0.925 | 0.120 | 6 | 20703721 | intron variant | A/G | snv | 0.27 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 2 | 2007 | 2012 | |||||||
|
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 |