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 | 20 | 44414578 | stop gained | T/A | snv |
|
0.700 | 1.000 | 7 | 1996 | 2014 | ||||||||||
|
20 | 44427509 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||||||
|
20 | 44410080 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 44426231 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 44405376 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
20 | 44355829 | missense variant | G/A;T | snv |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.040 | 20 | 44428455 | missense variant | T/C | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 20 | 44413780 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.040 | 20 | 44395368 | intron variant | T/C | snv | 0.33 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 20 | 44406020 | intron variant | T/C | snv | 0.50 | 0.45 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 20 | 44418452 | missense variant | G/A | snv | 4.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 20 | 44418452 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1.000 | 0.040 | 20 | 44414567 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 20 | 44413723 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 20 | 44406208 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 20 | 44424133 | inframe deletion | TGC/-;TGCTGC | delins | 1.4E-04 |
|
Nutritional and Metabolic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 20 | 44414511 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||||||
|
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 | |||||||
|
0.851 | 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 | ||||||||
|
0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 1977 | 2013 |