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 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.850 | 0.857 | 5 | 2004 | 2018 | ||||||
|
0.827 | 0.280 | 12 | 120997784 | synonymous variant | G/A;T | snv | 6.7E-06; 0.40 |
|
Cardiovascular Diseases | 0.820 | 1.000 | 2 | 2009 | 2011 | |||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 0.917 | 12 | 2000 | 2011 | |||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.780 | 1.000 | 8 | 2006 | 2018 | |||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Cardiovascular Diseases | 0.730 | 1.000 | 3 | 2009 | 2018 | |||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
Endocrine System Diseases | 0.090 | 1.000 | 9 | 2000 | 2016 | |||||||
|
0.807 | 0.080 | 12 | 120994405 | missense variant | G/A | snv | 1.4E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.090 | 1.000 | 9 | 2000 | 2016 | |||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 2008 | 2019 | |||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Endocrine System Diseases | 0.050 | 1.000 | 5 | 2008 | 2019 | |||||||
|
0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.050 | 1.000 | 5 | 1998 | 2016 | ||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2004 | 2019 | |||||||
|
0.882 | 0.080 | 12 | 120994238 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2009 | 2015 | ||||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2006 | 2019 | |||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||||
|
1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2000 | 2002 | ||||||
|
1.000 | 0.040 | 12 | 120999579 | missense variant | A/G | snv | 1.00 | 0.99 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2000 | 2002 | ||||||
|
0.807 | 0.200 | 12 | 120994265 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2011 | 2011 | ||||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||||
|
0.882 | 0.080 | 12 | 120979061 | missense variant | C/T | snv | 2.9E-02 | 2.2E-02 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2008 | 2018 | ||||||
|
0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 |
|
Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||||
|
0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||||
|
0.742 | 0.320 | 12 | 120997624 | missense variant | G/A | snv | 0.34 | 0.27 |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2009 | 2017 | ||||||
|
1.000 | 0.040 | 12 | 120979040 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 12 | 120989017 | stop gained | C/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 |