GCK, glucokinase, 2645
N. diseases: 210; N. variants: 182
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 7 | 44189469 | intron variant | C/T | snv | 0.17 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.830 | 0.750 | 4 | 2008 | 2013 | |||||||
|
1.000 | 0.080 | 7 | 44184343 | intron variant | G/A | snv | 0.20 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.080 | 7 | 44149772 | missense variant | C/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.827 | 0.080 | 7 | 44149763 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.851 | 0.080 | 7 | 44145176 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.080 | 7 | 44147747 | missense variant | C/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 7 | 44151050 | missense variant | A/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||||||
|
0.925 | 0.080 | 7 | 44149823 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 7 | 44184122 | intron variant | G/A | snv | 0.17 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |