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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.760 | 0.833 | 6 | 2000 | 2015 | |||||||
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.040 | 0.750 | 4 | 1999 | 2004 | |||||||
|
0.882 | 0.080 | 13 | 27920364 | missense variant | G/A;T | snv | 2.9E-03 |
|
Endocrine System Diseases | 0.040 | 0.750 | 4 | 1999 | 2004 | |||||||
|
1.000 | 0.080 | 13 | 27924439 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 2 | 1999 | 2002 | ||||||||
|
0.851 | 0.120 | 13 | 27924382 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
1.000 | 0.080 | 13 | 27920433 | missense variant | C/A;T | snv | 5.3E-06; 5.3E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 13 | 27924267 | missense variant | G/A;T | snv | 2.1E-04; 4.2E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 13 | 27924267 | missense variant | G/A;T | snv | 2.1E-04; 4.2E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.040 | 13 | 27920235 | missense variant | C/A;G;T | snv | 2.6E-03; 3.4E-04; 5.6E-05 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
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 | |||||||
|
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; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 13 | 27924565 | missense variant | C/A;T | snv | 6.0E-03; 1.8E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.851 | 0.120 | 13 | 27924382 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||||||
|
13 | 27925825 | 3 prime UTR variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
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 | ||||||||||
|
0.925 | 0.120 | 13 | 27924351 | missense variant | A/C | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | 13 | 27924351 | missense variant | A/C | snv |
|
Digestive 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 | |||||||||||
|
0.882 | 0.120 | 13 | 27920321 | frameshift variant | C/- | delins |
|
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 | |||||||||||
|
0.882 | 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 |
|
Nutritional and Metabolic Diseases; Endocrine 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 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 |