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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 102612593 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
Pathological Conditions, Signs and Symptoms; Neoplasms | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
4 | 102616435 | splice region variant | C/T | snv | 1.6E-04 | 9.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 102616435 | splice region variant | C/T | snv | 1.6E-04 | 9.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 102616435 | splice region variant | C/T | snv | 1.6E-04 | 9.1E-05 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
4 | 102596179 | missense variant | G/A;T | snv | 2.1E-04; 8.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
4 | 102617746 | downstream gene variant | C/T | snv | 3.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
4 | 102600993 | missense variant | G/A | snv | 1.6E-03 | 2.9E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 102600993 | missense variant | G/A | snv | 1.6E-03 | 2.9E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
4 | 102606567 | synonymous variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms | 0.060 | 1.000 | 6 | 2011 | 2017 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms | 0.050 | 1.000 | 5 | 2011 | 2017 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Cardiovascular Diseases | 0.040 | 1.000 | 4 | 2014 | 2016 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Digestive System Diseases; Infections | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Digestive System Diseases; Neoplasms | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms; Stomatognathic Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.020 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms; Stomatognathic Diseases | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||||||
|
0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |