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 | 20812981 | intron variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 20589496 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
6 | 20560204 | intron variant | A/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 20581597 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 6 | 20682391 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 6 | 20643496 | intron variant | G/A | snv | 0.85 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 6 | 20686765 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
6 | 20673649 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 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 |
|
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 | |||||||
|
6 | 21034534 | intron variant | G/A | snv | 5.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 21220145 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 20939503 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 20635589 | intron variant | C/T | snv | 9.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 20635589 | intron variant | C/T | snv | 9.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 20756745 | non coding transcript exon variant | C/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
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 | |||||||
|
1.000 | 0.040 | 6 | 20678199 | intron variant | G/C;T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.827 | 0.120 | 6 | 20643496 | intron variant | G/A | snv | 0.85 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
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 | |||||||
|
0.827 | 0.120 | 6 | 20624151 | intron variant | A/C;G | snv | 0.13 |
|
Skin and Connective Tissue Diseases | 0.700 | 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 | ||||||||
|
0.807 | 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 |