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 | 76079288 | intron variant | A/G | snv | 0.67 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
4 | 76107297 | non coding transcript exon variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 76022794 | missense variant | G/A;T | snv | 5.8E-03; 8.1E-06 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 76027146 | intron variant | A/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 76067448 | intron variant | AACA/-;AACAAACA | delins | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 76109246 | intron variant | TTTT/-;TT;TTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
4 | 76085652 | intron variant | G/A;T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 76076108 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
Digestive System Diseases; Infections | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||||
|
0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 |
|
Digestive System Diseases; Infections | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||||
|
1.000 | 0.080 | 4 | 76021932 | stop lost | A/G | snv | 2.9E-04 | 2.4E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.120 | 4 | 76021524 | 3 prime UTR variant | T/C;G | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
Neoplasms; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 4 | 76024369 | intron variant | G/A | snv | 0.13 |
|
Mental Disorders | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.160 | 4 | 76024944 | intron variant | A/G | snv | 0.29 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 4 | 76024944 | intron variant | A/G | snv | 0.29 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.160 | 4 | 76024944 | intron variant | A/G | snv | 0.29 |
|
Infections; Nervous System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 4 | 76034048 | 3 prime UTR variant | A/G | snv | 0.61 |
|
0.010 | 1.000 | 1 | 2015 | 2015 |