Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 4 | 54528005 | intergenic variant | C/T | snv | 0.18 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||||
|
3 | 6 | 139517282 | intron variant | C/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
4 | 12 | 4223312 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
2 | 1 | 117708521 | regulatory region variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 1 | 198626376 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2010 | 2017 | |||||||
|
2 | 1 | 154318779 | upstream gene variant | G/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
10 | 4 | 54542832 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
3 | 7 | 17774912 | intergenic variant | G/A | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 5 | 154655677 | intergenic variant | C/T | snv | 7.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 12 | 53366378 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 20 | 57416581 | regulatory region variant | A/G | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 20 | 50470475 | intergenic variant | G/A | snv | 0.47 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
3 | 18 | 46276334 | intergenic variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 10 | 63156891 | downstream gene variant | C/A | snv | 6.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 20 | 57415349 | regulatory region variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
4 | 7 | 93053295 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
4 | 19 | 18302251 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 14 | 103380462 | upstream gene variant | C/T | snv | 7.9E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 19 | 33263642 | intergenic variant | C/T | snv | 6.8E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 9 | 4757649 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 14 | 74980176 | regulatory region variant | C/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 |