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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.870 | 1.000 | 11 | 2009 | 2019 | |||||||
|
0.925 | 0.200 | 17 | 37701122 | missense variant | G/C | snv | 1.9E-05 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.810 | 1.000 | 3 | 2002 | 2013 | |||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
Neoplasms; Male Urogenital Diseases | 0.800 | 1.000 | 21 | 2007 | 2019 | |||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
Neoplasms; Male Urogenital Diseases | 0.800 | 1.000 | 18 | 2008 | 2018 | |||||||
|
1.000 | 0.200 | 17 | 37739490 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 17 | 1999 | 2018 | ||||||||
|
1.000 | 0.200 | 17 | 37739541 | missense variant | G/C | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 13 | 1999 | 2015 | ||||||||
|
1.000 | 0.200 | 17 | 37731756 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 4 | 2004 | 2015 | ||||||||
|
0.882 | 0.200 | 17 | 37743574 | intron variant | A/G | snv | 0.43 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.800 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.800 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
Neoplasms; Male Urogenital Diseases | 0.740 | 1.000 | 8 | 2008 | 2018 | |||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
Neoplasms; Male Urogenital Diseases | 0.740 | 1.000 | 8 | 2008 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 37714971 | intron variant | A/G | snv | 0.85 |
|
Neoplasms; Male Urogenital Diseases | 0.730 | 1.000 | 5 | 2011 | 2019 | |||||||
|
0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.730 | 1.000 | 3 | 2011 | 2018 | |||||||
|
0.925 | 0.080 | 17 | 37746322 | upstream gene variant | G/A;T | snv |
|
Neoplasms; Male Urogenital Diseases | 0.720 | 1.000 | 3 | 2008 | 2018 | ||||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.720 | 1.000 | 3 | 2010 | 2019 | |||||||
|
0.925 | 0.200 | 17 | 37731814 | stop gained | G/A | snv |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases | 0.710 | 1.000 | 4 | 2002 | 2015 | ||||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2017 | 2017 | |||||||
|
0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications | 0.710 | 1.000 | 2 | 2011 | 2012 | |||||||
|
0.807 | 0.160 | 17 | 37736525 | intron variant | C/G;T | snv |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||||||
|
0.925 | 0.120 | 17 | 37718512 | intron variant | A/G | snv | 0.82 |
|
Digestive System Diseases; Neoplasms; Endocrine System Diseases | 0.710 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.200 | 17 | 37710601 | missense variant | C/T | snv | 1.4E-04 | 4.9E-04 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 10 | 1999 | 2006 | ||||||
|
1.000 | 0.200 | 17 | 37744659 | missense variant | C/A | snv | 5.8E-04 | 6.1E-04 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 10 | 1999 | 2006 |