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 | 0.040 | 1 | 226376990 | intron variant | T/C | snv | 0.58 |
|
Neoplasms | 0.820 | 1.000 | 2 | 2011 | 2013 | |||||||
|
0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 |
|
Digestive System Diseases; Neoplasms | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||||
|
1.000 | 0.040 | 1 | 226380964 | intron variant | T/C | snv | 0.13 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 1 | 226368136 | intron variant | G/A | snv | 5.5E-03 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 226408338 | upstream gene variant | C/G;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.080 | 1 | 226361797 | non coding transcript exon variant | G/A | snv | 0.16 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 1 | 226361797 | non coding transcript exon variant | G/A | snv | 0.16 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 226384782 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 226384782 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.882 | 0.080 | 1 | 226381674 | intron variant | G/C | snv | 0.23 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 1 | 226381674 | intron variant | G/C | snv | 0.23 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.882 | 0.080 | 1 | 226381674 | intron variant | G/C | snv | 0.23 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 1 | 226367250 | non coding transcript exon variant | T/C | snv | 5.0E-02 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 |
|
Nervous System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 1 | 226407688 | intron variant | C/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 1 | 226407688 | intron variant | C/A;G | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 226363828 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.080 | 1 | 226408378 | upstream gene variant | C/T | snv | 0.23 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 226408378 | upstream gene variant | C/T | snv | 0.23 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.790 | 0.200 | 1 | 226360853 | 3 prime UTR variant | A/G | snv | 0.16 |
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 |