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 | 0.080 | 20 | 5118856 | missense variant | T/C | snv | 8.0E-06 |
|
Neoplasms; Immune System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
0.925 | 0.080 | 20 | 5119682 | missense variant | G/A;T | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 20 | 5119682 | missense variant | G/A;T | snv | 7.0E-06 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.120 | 20 | 5118990 | intron variant | G/A | snv | 0.41 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 20 | 5115472 | missense variant | C/A | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.120 | 20 | 5119600 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
20 | 5128613 | non coding transcript exon variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |