HLA-DQB2, major histocompatibility complex, class II, DQ beta 2, 3120
N. diseases: 91; N. variants: 16
Source: ALL
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 6 | 32758877 | missense variant | G/A;T | snv | 4.0E-06; 8.1E-06 |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||||
|
1.000 | 0.080 | 6 | 32761682 | synonymous variant | C/G;T | snv | 0.67 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 32761865 | synonymous variant | G/A;C | snv | 4.1E-06; 0.66 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.120 | 6 | 32763481 | 5 prime UTR variant | G/A;C | snv | 0.56 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 |
|
Digestive System Diseases; Infections | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||||
|
0.925 | 0.120 | 6 | 32756412 | 3 prime UTR variant | C/A;T | snv | 5.9E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.120 | 6 | 32756412 | 3 prime UTR variant | C/A;T | snv | 5.9E-02 |
|
Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.120 | 6 | 32764183 | upstream gene variant | G/A | snv | 0.55 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.120 | 6 | 32764183 | upstream gene variant | G/A | snv | 0.55 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.200 | 6 | 32764433 | upstream gene variant | G/A | snv | 0.53 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.200 | 6 | 32764433 | upstream gene variant | G/A | snv | 0.53 |
|
Immune System Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.200 | 6 | 32764433 | upstream gene variant | G/A | snv | 0.53 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.080 | 6 | 32755795 | downstream gene variant | G/A;T | snv |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 |