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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 33308993 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.882 | 0.320 | 6 | 33299895 | 3 prime UTR variant | A/G | snv | 0.60 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.320 | 6 | 33299895 | 3 prime UTR variant | A/G | snv | 0.60 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.320 | 6 | 33299895 | 3 prime UTR variant | A/G | snv | 0.60 |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.120 | 6 | 33312852 | intron variant | C/G | snv | 0.54 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 6 | 33312532 | intron variant | C/T | snv | 0.23 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.200 | 6 | 33314225 | 5 prime UTR variant | C/T | snv | 0.52 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.200 | 6 | 33314225 | 5 prime UTR variant | C/T | snv | 0.52 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 33304176 | synonymous variant | G/A | snv | 1.2E-02 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.320 | 6 | 33305078 | missense variant | G/C | snv | 0.56 | 0.60 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.320 | 6 | 33305078 | missense variant | G/C | snv | 0.56 | 0.60 |
|
Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases; Immune System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.882 | 0.320 | 6 | 33305078 | missense variant | G/C | snv | 0.56 | 0.60 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 33315989 | missense variant | T/C | snv | 0.54 | 0.54 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 33307236 | intron variant | T/C | snv | 0.60 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 |