HLA-DQA1, major histocompatibility complex, class II, DQ alpha 1, 3117
N. diseases: 427; N. variants: 101
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 | 32642659 | synonymous variant | T/C | snv | 0.63 | 0.34 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
6 | 32632634 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
0.925 | 0.080 | 6 | 32634619 | intron variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
6 | 32632808 | 5 prime UTR variant | G/A | snv | 6.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32640505 | intron variant | -/A;GAA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.120 | 6 | 32634653 | intron variant | C/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 32644683 | non coding transcript exon variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
6 | 32654355 | regulatory region variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.160 | 6 | 32634492 | intron variant | G/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.160 | 6 | 32634492 | intron variant | G/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.320 | 6 | 32636595 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.827 | 0.280 | 6 | 32638979 | synonymous variant | G/A | snv | 3.0E-05 | 1.8E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 32643544 | 3 prime UTR variant | T/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 32644174 | non coding transcript exon variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 6 | 32644620 | non coding transcript exon variant | A/G | snv | 0.42 |
|
Digestive System Diseases | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.040 | 6 | 32644620 | non coding transcript exon variant | A/G | snv | 0.42 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 |