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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 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 | ||||||||
|
0.827 | 0.160 | 6 | 20660803 | intron variant | A/C | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 20718009 | intron variant | A/T | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.080 | 6 | 20659575 | intron variant | T/C | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 6 | 20725009 | intron variant | T/C | snv | 0.28 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 6 | 20641105 | intron variant | C/T | snv | 0.13 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.882 | 0.120 | 6 | 20717024 | intron variant | T/C | snv | 0.30 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.240 | 6 | 20679478 | intron variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
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 | ||||||||||
|
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 | |||||||
|
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 |