KCNQ1, potassium voltage-gated channel subfamily Q member 1, 3784
N. diseases: 281; N. variants: 380
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 1.000 | 32 | 2008 | 2019 | |||||||
|
0.790 | 0.240 | 11 | 2835964 | intron variant | A/C;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.900 | 0.889 | 18 | 2008 | 2019 | ||||||||
|
0.882 | 0.200 | 11 | 2837316 | intron variant | C/T | snv | 8.1E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.880 | 1.000 | 11 | 2008 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.840 | 1.000 | 10 | 2010 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2825839 | intron variant | T/G | snv | 0.40 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 8 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 11 | 2837210 | intron variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.882 | 0.160 | 11 | 2822986 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 3 | 2011 | 2016 | ||||||||
|
1.000 | 0.080 | 11 | 2817183 | intron variant | T/C | snv | 0.45 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 2 | 2010 | 2017 | |||||||
|
1.000 | 0.080 | 11 | 2670270 | non coding transcript exon variant | G/A | snv | 0.31 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 11 | 2810311 | intron variant | T/C | snv | 0.12 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 11 | 2828300 | intron variant | A/C | snv | 0.10 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.760 | 1.000 | 8 | 2009 | 2017 | |||||||
|
1.000 | 0.080 | 11 | 2799835 | intron variant | T/C | snv | 0.68 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1.000 | 0.080 | 11 | 2829598 | intron variant | G/A | snv | 0.66 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2010 | 2011 | |||||||
|
1.000 | 0.080 | 11 | 2620807 | non coding transcript exon variant | A/G | snv | 5.5E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 11 | 2811675 | intron variant | C/T | snv | 0.23 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 11 | 2684113 | non coding transcript exon variant | A/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 11 | 2822573 | intron variant | G/A | snv | 0.22 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2829552 | intron variant | T/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 11 | 2831299 | intron variant | T/C | snv | 0.27 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 11 | 2836784 | intron variant | C/G | snv | 2.3E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2619190 | non coding transcript exon variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 2800385 | intron variant | A/C | snv | 0.67 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.060 | 0.833 | 6 | 2009 | 2019 | |||||||
|
1.000 | 0.080 | 11 | 2481089 | intron variant | C/T | snv | 0.16 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.200 | 11 | 2570725 | missense variant | G/A;C | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.080 | 11 | 2803570 | intron variant | G/T | snv | 8.8E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |