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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 |
|
Infections | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||||
|
0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 |
|
Infections | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||||
|
0.807 | 0.200 | 2 | 218395091 | 3 prime UTR variant | TGTG/- | del | 8.4E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.160 | 2 | 218381927 | upstream gene variant | TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG | delins |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 2 | 218381927 | upstream gene variant | TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG | delins |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.040 | 2 | 218387485 | intron variant | C/T | snv | 8.0E-02 |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.040 | 2 | 218387485 | intron variant | C/T | snv | 8.0E-02 |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 |
|
Infections | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
Immune System Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 2 | 218396453 | 3 prime UTR variant | C/T | snv | 0.37 |
|
Infections | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.120 | 2 | 218384290 | missense variant | C/T | snv | 0.23 | 0.23 |
|
Infections; Animal Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 |
|
Infections | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||||
|
0.882 | 0.080 | 2 | 218394547 | non coding transcript exon variant | G/A | snv | 0.51 |
|
Infections | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||||
|
0.882 | 0.120 | 2 | 218384290 | missense variant | C/T | snv | 0.23 | 0.23 |
|
Infections; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.120 | 2 | 218384290 | missense variant | C/T | snv | 0.23 | 0.23 |
|
Infections | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.882 | 0.080 | 2 | 218394547 | non coding transcript exon variant | G/A | snv | 0.51 |
|
Infections; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 |
|
Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.160 | 2 | 218385280 | non coding transcript exon variant | G/A;C;T | snv | 0.23; 1.4E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.120 | 2 | 218381984 | upstream gene variant | C/A;T | snv |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |