ERAP1, endoplasmic reticulum aminopeptidase 1, 51752
N. diseases: 156; N. variants: 57
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 5 | 96761124 | 3 prime UTR variant | A/G | snv | 0.35 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.040 | 5 | 96895296 | missense variant | G/T | snv | 0.55 | 0.54 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1.000 | 0.040 | 5 | 96875556 | intron variant | A/G | snv | 8.8E-02 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 5 | 96760515 | intron variant | C/G | snv | 0.29 |
|
Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 5 | 96777250 | intron variant | A/G | snv | 0.82 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2011 | 2019 | |||||||
|
1.000 | 0.040 | 5 | 96762510 | 3 prime UTR variant | G/A | snv | 0.36 |
|
Musculoskeletal Diseases | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||||
|
1.000 | 0.040 | 5 | 96785702 | non coding transcript exon variant | A/G | snv | 0.22 |
|
Musculoskeletal Diseases | 0.020 | 0.500 | 2 | 2012 | 2018 | |||||||
|
0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 |
|
Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||||
|
0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 |
|
Musculoskeletal Diseases | 0.030 | 1.000 | 3 | 2013 | 2016 | |||||||
|
1.000 | 0.040 | 5 | 96762191 | 3 prime UTR variant | T/G | snv | 0.36 |
|
Musculoskeletal Diseases | 0.030 | 0.667 | 3 | 2016 | 2018 | |||||||
|
0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 |
|
Musculoskeletal Diseases | 0.040 | 1.000 | 4 | 2011 | 2015 | |||||||
|
0.882 | 0.120 | 5 | 96793832 | missense variant | T/C | snv | 0.15 | 0.16 |
|
Musculoskeletal Diseases | 0.070 | 1.000 | 7 | 2010 | 2020 | ||||||
|
0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 |
|
Musculoskeletal Diseases | 0.100 | 1.000 | 16 | 2009 | 2019 | ||||||
|
0.827 | 0.120 | 5 | 96916885 | intron variant | T/C | snv | 0.42 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.882 | 0.040 | 5 | 96812030 | upstream gene variant | A/G | snv | 0.23 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 5 | 96790082 | intron variant | G/T | snv | 0.16 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.120 | 5 | 96839226 | intron variant | C/T | snv | 0.27 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.040 | 5 | 96790494 | intron variant | A/G | snv | 0.62 | 0.63 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
0.827 | 0.120 | 5 | 96786011 | intron variant | C/T | snv | 0.62 | 0.63 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
0.724 | 0.240 | 5 | 96888176 | intron variant | T/A;G | snv |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 96790605 | missense variant | A/G;T | snv | 0.62 |
|
Musculoskeletal Diseases | 0.710 | 1.000 | 2 | 2011 | 2019 | |||||||
|
0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 |
|
Musculoskeletal Diseases | 0.790 | 0.900 | 10 | 2010 | 2019 | ||||||
|
1.000 | 0.040 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 |
|
Musculoskeletal Diseases | 0.890 | 1.000 | 10 | 2009 | 2018 | |||||||
|
0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 |
|
Musculoskeletal Diseases | 0.900 | 0.957 | 23 | 2009 | 2020 |