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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.790 | 0.320 | 6 | 32315077 | intron variant | A/G | snv | 0.14 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.810 | 1.000 | 5 | 2007 | 2016 | |||||||
|
0.925 | 0.160 | 6 | 32368410 | intron variant | T/C | snv | 0.83 |
|
Immune System Diseases; Nervous System Diseases | 0.810 | 1.000 | 4 | 2007 | 2018 | |||||||
|
1.000 | 0.120 | 6 | 32371299 | intron variant | A/G | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 6 | 32369853 | intron variant | G/A;C | snv | 0.59 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.200 | 6 | 32353777 | intron variant | G/T | snv | 4.6E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.200 | 6 | 32353777 | intron variant | G/T | snv | 4.6E-02 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.200 | 6 | 32338202 | intron variant | G/T | snv | 0.83 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.851 | 0.240 | 6 | 32370918 | intron variant | A/G | snv | 0.26 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.320 | 6 | 32289789 | intron variant | G/A | snv | 0.68 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.200 | 6 | 32373576 | intron variant | G/A | snv | 0.45 |
|
Cardiovascular Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 6 | 32341131 | intron variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.160 | 6 | 32318984 | intron variant | T/G | snv | 0.14 |
|
Male Urogenital Diseases | 0.710 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.925 | 0.120 | 6 | 32357594 | intron variant | A/C | snv | 2.6E-02 |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.710 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 6 | 32366178 | missense variant | T/C | snv | 0.42 | 0.33 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 4 | 2007 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 32368809 | missense variant | A/G | snv | 0.41 | 0.33 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 4 | 2007 | 2011 | ||||||
|
0.882 | 0.200 | 6 | 32332045 | stop gained | G/A | snv | 0.19 | 0.23 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||
|
1.000 | 0.120 | 6 | 32339605 | missense variant | G/A | snv | 0.40 | 0.33 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||
|
0.925 | 0.200 | 6 | 32349858 | non coding transcript exon variant | G/A | snv | 0.37 | 0.42 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | ||||||
|
0.827 | 0.360 | 6 | 32368989 | intron variant | A/G | snv | 0.14 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.882 | 0.240 | 6 | 32369909 | missense variant | A/G;T | snv | 0.81 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.851 | 0.240 | 6 | 32370918 | intron variant | A/G | snv | 0.26 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 32321541 | intron variant | T/C | snv | 0.34 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.882 | 0.200 | 6 | 32305988 | intron variant | A/G | snv | 0.21 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 32292573 | intron variant | T/C | snv | 0.25 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
0.790 | 0.400 | 6 | 32293475 | missense variant | T/G | snv | 6.0E-02 | 6.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 |