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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 20761003 | intron variant | A/C | snv | 0.29 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 20699892 | intron variant | T/A | snv | 4.2E-04 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.080 | 6 | 20592753 | intron variant | C/T | snv | 6.6E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 6 | 20643496 | intron variant | G/A | snv | 0.85 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.752 | 0.320 | 6 | 20728500 | intron variant | T/C | snv | 0.78 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 20731293 | intron variant | A/C;T | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.120 | 6 | 20657333 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
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 | |||||||
|
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 | |||||||
|
0.882 | 0.120 | 6 | 20685255 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.882 | 0.160 | 6 | 20694653 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 20675561 | intron variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.120 | 6 | 20685255 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.882 | 0.160 | 6 | 20694653 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 20686342 | intron variant | C/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 20674460 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 6 | 20621007 | intron variant | T/C | snv | 0.69 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
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 | |||||||
|
1.000 | 0.080 | 6 | 20923044 | intron variant | T/A | snv | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.080 | 6 | 20535303 | intron variant | G/T | snv | 0.10 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.120 | 6 | 20766466 | intron variant | C/A | snv | 0.39 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 |