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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.732 | 0.280 | 17 | 34254422 | upstream gene variant | G/C | snv | 0.15 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Infections; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Neoplasms; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.776 | 0.240 | 17 | 34255979 | non coding transcript exon variant | AGCTCCTCCTTCTC/-;AGCTCCTCCTTCTCAGCTCCTCCTTCTC | delins | 0.33 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.280 | 17 | 34256250 | synonymous variant | T/C | snv | 0.44 | 0.48 |
|
Eye Diseases | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||||
|
0.790 | 0.280 | 17 | 34256250 | synonymous variant | T/C | snv | 0.44 | 0.48 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.790 | 0.280 | 17 | 34256250 | synonymous variant | T/C | snv | 0.44 | 0.48 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.790 | 0.280 | 17 | 34256250 | synonymous variant | T/C | snv | 0.44 | 0.48 |
|
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2017 | 2017 |