WFS1, wolframin ER transmembrane glycoprotein, 7466
N. diseases: 185; 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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.060 | 1.000 | 6 | 2009 | 2013 | ||||||
|
1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 5 | 2010 | 2018 | |||||||
|
0.882 | 0.360 | 4 | 6268329 | upstream gene variant | G/A | snv | 0.64 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.820 | 1.000 | 5 | 2009 | 2017 | |||||||
|
0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2008 | 2013 | ||||||
|
1.000 | 0.080 | 4 | 6300792 | missense variant | G/A;C;T | snv | 0.78 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 6288259 | intron variant | T/G | snv | 0.61 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2012 | 2014 | |||||||
|
1.000 | 0.080 | 4 | 6291623 | intron variant | T/C | snv | 0.63 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 4 | 6298213 | intron variant | C/T | snv | 0.50 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 4 | 6269316 | upstream gene variant | A/T | snv | 0.56 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 4 | 6292240 | intron variant | G/A | snv | 0.63 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 6283988 | intron variant | A/G | snv | 0.79 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 4 | 6293966 | intron variant | C/G | snv | 0.63 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.080 | 4 | 6280234 | intron variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 4 | 6289001 | stop gained | C/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 |