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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 7 | 130747779 | intergenic variant | A/T | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
8 | 1.000 | 0.080 | 2 | 21041028 | missense variant | G/A | snv | 0.26 | 0.24 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 17 | 43797377 | downstream gene variant | C/A | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
3 | 5 | 157052312 | intron variant | G/A;C | snv | 6.2E-03; 0.67 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
9 | 0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
4 | 8 | 19985951 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||||
|
13 | 0.925 | 0.160 | 11 | 61804006 | 5 prime UTR variant | T/C | snv | 0.28 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
7 | 1.000 | 0.080 | 11 | 61811991 | intron variant | A/G | snv | 0.40 | 0.28 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||
|
14 | 0.851 | 0.200 | 11 | 61836038 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2008 | 2012 | |||||
|
16 | 0.807 | 0.320 | 11 | 61842278 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
5 | 1 | 62590441 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
2 | 6 | 139514361 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.700 | 1.000 | 2 | 2007 | 2009 | ||||
|
5 | 11 | 116752943 | intron variant | C/T | snv | 0.58 | 0.700 | 1.000 | 2 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.200 | 11 | 116741111 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 4 | 87097839 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 2 | 2012 | 2013 | |||
|
12 | 0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
3 | 11 | 116710925 | intergenic variant | G/A | snv | 0.22 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
20 | 0.827 | 0.160 | 16 | 56956804 | regulatory region variant | C/A | snv | 0.29 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 2 | 65057489 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
5 | 1.000 | 0.080 | 15 | 58387979 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
5 | 6 | 31872244 | intron variant | T/A | snv | 0.79 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 8 | 20033716 | regulatory region variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 13 | 19526394 | intron variant | C/T | snv | 0.700 | 1.000 | 2 | 2018 | 2018 |