HLA-DQB1, major histocompatibility complex, class II, DQ beta 1, 3119
N. diseases: 504; N. variants: 43
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 | 32661407 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 6 | 32661407 | missense variant | A/G | snv |
|
Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.925 | 0.120 | 6 | 32661407 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 2 | 2007 | 2009 | |||||||
|
1.000 | 0.120 | 6 | 32665011 | missense variant | C/T | snv | 5.0E-06 | 7.6E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 |
|
Respiratory Tract Diseases; Immune System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.120 | 6 | 32668286 | 5 prime UTR variant | -/CA | delins |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 6 | 32668286 | 5 prime UTR variant | G/A | snv | 0.20 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.160 | 6 | 32666690 | 5 prime UTR variant | C/T | snv | 0.20 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 |
|
Digestive System Diseases; Chemically-Induced Disorders | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.040 | 6 | 32661183 | intron variant | T/C | snv | 0.24 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 32661903 | non coding transcript exon variant | A/G | snv | 0.38 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 6 | 32667420 | intron variant | T/C | snv | 0.20 |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 6 | 32668069 | intron variant | C/A;G | snv |
|
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 32661903 | non coding transcript exon variant | -/C | ins |
|
Hemic and Lymphatic Diseases | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.320 | 6 | 32659937 | 3 prime UTR variant | T/G | snv | 0.56 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 32660651 | non coding transcript exon variant | C/A | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.120 | 6 | 32660651 | non coding transcript exon variant | C/A | snv | 9.6E-02 |
|
Infections | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 6 | 32666564 | missense variant | A/G;T | snv | 0.19 | 0.39 |
|
Digestive System Diseases; Infections | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
0.851 | 0.160 | 6 | 32666690 | 5 prime UTR variant | C/T | snv | 0.20 |
|
Immune System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 6 | 32665936 | intron variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 6 | 32665936 | intron variant | A/G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 6 | 32661360 | missense variant | T/C;G | snv | 0.20 | 0.50 |
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |