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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 20 | 44360627 | intron variant | G/A | snv | 0.18 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.830 | 1.000 | 7 | 2011 | 2017 | |||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 11 | 2009 | 2019 | |||||||
|
0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv |
|
0.800 | 1.000 | 7 | 2010 | 2017 | |||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 5 | 2010 | 2018 | |||||||
|
0.851 | 0.080 | 20 | 44413714 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 1997 | 2007 | |||||||
|
1.000 | 0.080 | 20 | 44424243 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 1997 | 2007 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.800 | 1.000 | 4 | 2011 | 2019 | |||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 4 | 2010 | 2019 | ||||||
|
1.000 | 20 | 44414578 | stop gained | T/A | snv |
|
0.700 | 1.000 | 7 | 1996 | 2014 | ||||||||||
|
0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||||
|
0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 2000 | 2016 | |||||||
|
0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 6 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1977 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 1977 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 4 | 2000 | 2013 | ||||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 4 | 2009 | 2013 | |||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
0.851 | 0.160 | 20 | 44413724 | missense variant | C/T | snv | 3.1E-02 | 2.5E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
20 | 44427509 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 20 | 44428409 | missense variant | G/A | snv | 8.0E-06; 8.0E-06 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 1998 | 1998 | ||||||
|
0.925 | 0.080 | 20 | 44406208 | frameshift variant | G/- | delins |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 20 | 44406208 | frameshift variant | G/- | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
20 | 44410080 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 20 | 44361137 | intron variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 |