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 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.850 | 1.000 | 7 | 2001 | 2013 | |||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.740 | 0.833 | 6 | 2013 | 2019 | ||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
Endocrine System Diseases | 0.030 | 1.000 | 3 | 2007 | 2019 | ||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2007 | 2019 | ||||||
|
0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||||
|
0.882 | 0.120 | 7 | 127614533 | missense variant | G/A;T | snv | 1.2E-04; 9.1E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 7 | 127613804 | missense variant | G/A | snv | 5.2E-05 | 3.5E-05 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.080 | 7 | 127613804 | missense variant | G/A | snv | 5.2E-05 | 3.5E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.925 | 0.120 | 7 | 127614497 | missense variant | G/A;T | snv | 7.0E-03; 4.5E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.120 | 7 | 127614497 | missense variant | G/A;T | snv | 7.0E-03; 4.5E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.710 | < 0.001 | 1 | 2004 | 2004 | |||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.080 | 7 | 127613496 | missense variant | C/T | snv | 8.2E-03 | 2.1E-03 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1.000 | 0.120 | 7 | 127615412 | missense variant | G/A | snv | 4.3E-04 | 1.5E-03 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||||
|
1.000 | 0.080 | 7 | 127611134 | missense variant | T/G | snv | 0.73 | 0.75 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||||
|
0.925 | 0.080 | 7 | 127613804 | missense variant | G/A | snv | 5.2E-05 | 3.5E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 | |||||||||
|
7 | 127610543 | 3 prime UTR variant | G/A | snv | 0.75 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 127611677 | splice acceptor variant | C/T | snv | 4.1E-06 | 7.1E-06 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.700 | 0 |