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 | 1 | 167518414 | frameshift variant | -/C | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 167439354 | missense variant | TG/CA | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 167439354 | missense variant | T/A;G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 1 | 167439353 | missense variant | CTG/ATA | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 167435434 | stop gained | G/A;T | snv | 2.6E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 1 | 167518464 | start lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 1 | 167439355 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.200 | 1 | 167479867 | intron variant | A/G | snv | 0.54 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 167499627 | intron variant | G/T | snv | 0.15 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 |
|
Skin and Connective Tissue Diseases | 0.830 | 1.000 | 5 | 2010 | 2019 | |||||||
|
0.882 | 0.080 | 1 | 167451188 | intron variant | T/G | snv | 0.30 |
|
Immune System Diseases | 0.710 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 167458010 | non coding transcript exon variant | C/A;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
0.925 | 0.200 | 1 | 167442147 | intron variant | A/G | snv | 0.29 |
|
Immune System Diseases | 0.810 | 1.000 | 2 | 2011 | 2013 | |||||||
|
1.000 | 0.080 | 1 | 167430837 | 3 prime UTR variant | T/A | snv | 0.82 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.200 | 1 | 167496884 | intron variant | C/T | snv | 0.24 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.200 | 1 | 167496884 | intron variant | C/T | snv | 0.24 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.160 | 1 | 167483453 | intron variant | T/C | snv | 0.17 |
|
Digestive System Diseases; Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.160 | 1 | 167483453 | intron variant | T/C | snv | 0.17 |
|
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.200 | 1 | 167479867 | intron variant | A/G | snv | 0.54 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 167467033 | intron variant | A/G | snv | 0.27 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.080 | 1 | 167467033 | intron variant | A/G | snv | 0.27 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 167464183 | intron variant | A/G | snv | 0.33 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 |