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 | 0.120 | 1 | 17336144 | intron variant | T/C | snv | 0.56 | 0.54 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.770 | 1.000 | 7 | 2008 | 2017 | ||||||
|
0.925 | 0.200 | 1 | 17331039 | missense variant | G/A | snv | 0.56 | 0.55 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.720 | 1.000 | 3 | 2007 | 2017 | ||||||
|
0.925 | 0.120 | 1 | 17336167 | missense variant | T/C;G | snv | 0.63; 4.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.030 | 1.000 | 3 | 2014 | 2018 | |||||||
|
1.000 | 0.120 | 1 | 17348042 | synonymous variant | C/A | snv | 0.39 | 0.37 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.810 | 1.000 | 3 | 2011 | 2019 | ||||||
|
1.000 | 0.120 | 1 | 17346235 | intron variant | G/A | snv | 0.31 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 3 | 2014 | 2019 | |||||||
|
1.000 | 0.120 | 1 | 17331121 | missense variant | T/C | snv | 0.56 | 0.56 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||||
|
1.000 | 0.120 | 1 | 17334004 | missense variant | G/C;T | snv | 0.55; 1.2E-05 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2007 | 2017 | |||||||
|
1.000 | 0.080 | 1 | 17356224 | intron variant | A/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.200 | 1 | 17331039 | missense variant | G/A | snv | 0.56 | 0.55 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 |
|
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.925 | 0.160 | 1 | 17357031 | intron variant | T/A;G | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.160 | 1 | 17357031 | intron variant | T/A;G | snv |
|
Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 1 | 17356662 | intron variant | A/G | snv | 0.70 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.925 | 0.120 | 1 | 17336167 | missense variant | T/C;G | snv | 0.63; 4.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 1 | 17308901 | intron variant | A/G | snv | 0.36 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 1 | 17347907 | intron variant | C/T | snv | 0.43 | 0.45 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
0.925 | 0.200 | 1 | 17347727 | intron variant | C/T | snv | 9.5E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.925 | 0.200 | 1 | 17347727 | intron variant | C/T | snv | 9.5E-02 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 0.120 | 1 | 17347613 | intron variant | C/T | snv | 0.36 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 17307077 | upstream gene variant | G/A;T | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 17307027 | upstream gene variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 1 | 17342111 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 1 | 17332069 | intron variant | C/A;T | snv | 5.2E-02 |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |