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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.700 | 1.000 | 3 | 2014 | 2018 | |||||||
|
0.925 | 0.120 | 13 | 27924351 | missense variant | A/C | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 13 | 27920321 | frameshift variant | C/- | delins |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 27924382 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 13 | 27924341 | missense variant | G/T | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 13 | 27924381 | missense variant | G/A | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 13 | 27920295 | missense variant | G/A | snv | 2.3E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
0.925 | 0.120 | 13 | 27924351 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 27924291 | missense variant | C/A;G | snv | 8.1E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 13 | 27924420 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 13 | 27924622 | missense variant | A/G | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.120 | 13 | 27920321 | frameshift variant | C/- | delins |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.851 | 0.120 | 13 | 27924382 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 13 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | ||||||||||
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.080 | 13 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
13 | 27920030 | 5 prime UTR variant | G/- | delins | 0.22 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
0.925 | 0.120 | 13 | 27920295 | missense variant | G/A | snv | 2.3E-05 | 7.0E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
13 | 27919139 | upstream gene variant | T/C | snv | 5.6E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 13 | 27920235 | missense variant | C/A;G;T | snv | 2.6E-03; 3.4E-04; 5.6E-05 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 |