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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 3 | 2007 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 31665719 | 5 prime UTR variant | G/T | snv | 0.17 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
Neoplasms; Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
Infections | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.120 | 6 | 31673362 | 3 prime UTR variant | A/G | snv | 0.23 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 6 | 31668965 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.120 | 6 | 31668965 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.120 | 6 | 31668965 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.120 | 6 | 31672202 | missense variant | C/T | snv | 7.4E-02 | 7.9E-02 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.120 | 6 | 31672202 | missense variant | C/T | snv | 7.4E-02 | 7.9E-02 |
|
Infections | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1.000 | 0.080 | 6 | 31670987 | missense variant | G/A | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.080 | 6 | 31670987 | missense variant | G/A | snv |
|
Nervous System Diseases; Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |