KCNJ11, potassium inwardly rectifying channel subfamily J member 11, 3767
N. diseases: 218; N. variants: 80
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 | 11 | 17387902 | missense variant | C/A | snv | 4.8E-05 | 9.8E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.160 | 11 | 17387027 | frameshift variant | -/A | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 11 | 17387320 | frameshift variant | -/GATGATC | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 11 | 17387373 | frameshift variant | -/T | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 11 | 17387726 | frameshift variant | AAGG/- | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.160 | 11 | 17387801 | frameshift variant | -/T | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 11 | 17387548 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17387337 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 11 | 17387128 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 17387103 | missense variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 17387095 | missense variant | A/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.240 | 11 | 17387091 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.160 | 11 | 17387248 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
0.882 | 0.160 | 11 | 17387594 | stop gained | G/C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.827 | 0.080 | 11 | 17387968 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 17387935 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 17387566 | missense variant | G/A | snv | 2.4E-05 | 7.7E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.160 | 11 | 17387532 | missense variant | G/A | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2001 | 2011 | |||||||
|
0.882 | 0.160 | 11 | 17387992 | missense variant | G/A;C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2003 | 2016 | |||||||
|
0.882 | 0.160 | 11 | 17387190 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 6 | 2005 | 2013 | |||||||
|
0.827 | 0.160 | 11 | 17387937 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.790 | 0.240 | 11 | 17387943 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 13 | 2004 | 2017 | |||||||
|
0.882 | 0.160 | 11 | 17387916 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
1.000 | 0.080 | 11 | 17387989 | missense variant | A/C;G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 | ||||||||
|
0.882 | 0.120 | 11 | 17387206 | missense variant | T/C;G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 13 | 2004 | 2017 |