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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
41 | 0.672 | 0.600 | 12 | 111569952 | intron variant | C/T | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
9 | 0.827 | 0.320 | 12 | 69350234 | missense variant | C/A | snv | 4.2E-02 | 4.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.827 | 0.280 | 12 | 6338356 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.763 | 0.240 | 17 | 16948873 | missense variant | A/G | snv | 3.5E-03 | 3.9E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
18 | 0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.240 | 20 | 50338887 | regulatory region variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
6 | 0.882 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 | 0.700 | 1.000 | 3 | 2013 | 2018 | ||||
|
3 | 1.000 | 0.120 | 16 | 85911217 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||
|
8 | 1.000 | 0.080 | 3 | 42864624 | missense variant | T/C | snv | 5.1E-02 | 4.7E-02 | 0.700 | 1.000 | 2 | 2013 | 2016 | |||
|
3 | 1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 19 | 12846836 | intron variant | C/T | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 16 | 85939422 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 17 | 58331728 | non coding transcript exon variant | G/A;C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1.000 | 0.080 | 17 | 58281068 | upstream gene variant | C/T | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.776 | 0.080 | 10 | 99530544 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 6 | 44264337 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 1.000 | 0.040 | 3 | 128578726 | upstream gene variant | G/A;C | snv | 0.31 | 0.700 | 1.000 | 3 | 2011 | 2017 |