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 | 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 | |||||||
|
0.882 | 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 | |||||||
|
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 | ||||||||||
|
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 | |||||||
|
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 | ||||||
|
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 | 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 | 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 | 27924519 | missense variant | G/A | snv | 1.3E-03 | 2.0E-04 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
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 | |||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
Endocrine System Diseases | 0.030 | 1.000 | 3 | 2000 | 2019 | ||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2000 | 2019 | ||||||
|
0.925 | 0.080 | 13 | 27920190 | missense variant | T/C | snv | 1.1E-04 | 1.0E-04 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.710 | 1.000 | 1 | 2002 | 2002 | ||||||
|
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 | 27920295 | missense variant | G/A | snv | 2.3E-05 | 7.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
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 | ||||||
|
0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 1999 | 2000 | ||||||
|
0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 1999 | 2000 | ||||||
|
0.925 | 0.080 | 13 | 27920314 | missense variant | A/T | snv | 1.5E-05 | 1.4E-05 |
|
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 |