HLA-DRB1, major histocompatibility complex, class II, DR beta 1, 3123
N. diseases: 1018; N. variants: 185
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 32580773 | synonymous variant | G/A | snv | 7.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32591382 | upstream gene variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32602155 | intergenic variant | T/A | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.120 | 6 | 32602624 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
6 | 32602640 | intergenic variant | A/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32606583 | intergenic variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32606583 | intergenic variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32591705 | upstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 6 | 32593106 | upstream gene variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.240 | 6 | 32606394 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.240 | 6 | 32606394 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
6 | 32579417 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 32591333 | upstream gene variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 32597873 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
6 | 32604051 | intergenic variant | T/G | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 |
|
Cardiovascular Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
6 | 32581757 | missense variant | A/C;G;T | snv | 7.6E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||||
|
1.000 | 0.120 | 6 | 32607747 | intergenic variant | G/T | snv | 0.28 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||||
|
1.000 | 0.080 | 6 | 32584346 | missense variant | G/A | snv | 3.2E-02 | 5.7E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 6 | 32610275 | intergenic variant | G/A | snv | 0.43 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 |