CDKAL1, CDK5 regulatory subunit associated protein 1 like 1, 54901
N. diseases: 86; N. variants: 130
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 0.966 | 29 | 2007 | 2019 | ||||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 0.958 | 24 | 2007 | 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 | 13 | 2007 | 2019 | |||||||
|
0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.890 | 0.889 | 9 | 2009 | 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 | 7 | 2009 | 2019 | |||||||
|
0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.830 | 1.000 | 6 | 2007 | 2017 | |||||||
|
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 | 7 | 2010 | 2019 | |||||||
|
0.925 | 0.120 | 6 | 20703721 | intron variant | A/G | snv | 0.27 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 4 | 2007 | 2012 | |||||||
|
0.925 | 0.120 | 6 | 20657634 | intron variant | A/G | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 3 | 2008 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 20686342 | intron variant | C/A | snv | 0.25 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2011 | 2016 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2008 | 2015 | |||||||
|
1.000 | 0.080 | 6 | 20641105 | intron variant | C/T | snv | 0.13 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 3 | 2010 | 2013 | |||||||
|
1.000 | 0.040 | 6 | 20812357 | intron variant | G/A | snv | 0.64 |
|
Digestive System Diseases | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||||
|
1.000 | 0.080 | 6 | 20719330 | intron variant | G/A | snv | 0.30 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.925 | 0.120 | 6 | 20703721 | intron variant | A/G | snv | 0.27 |
|
Pathological Conditions, Signs and Symptoms | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 20682391 | intron variant | T/C | snv | 0.29 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2007 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 20679079 | intron variant | T/G | snv | 0.41 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.080 | 6 | 20717173 | intron variant | A/G | snv | 0.30 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.882 | 0.160 | 6 | 20694653 | intron variant | C/T | snv | 0.20 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1.000 | 0.080 | 6 | 20643521 | intron variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | ||||||||
|
1.000 | 0.080 | 6 | 20716727 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 20675561 | intron variant | C/A | snv | 0.26 |
|
Pathological Conditions, Signs and Symptoms | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
6 | 20589496 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1.000 | 0.080 | 6 | 20728282 | intron variant | C/T | snv | 0.49 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 |