| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 12 | 16370646 | intron variant | T/G | snv | 0.66 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 5 | 95816381 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.080 | 5 | 149428245 | non coding transcript exon variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.240 | 5 | 149428518 | non coding transcript exon variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 5 | 95827931 | downstream gene variant | T/A | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 5 | 88751929 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
12 | 0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 17 | 43528566 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 5 | 95831293 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 17 | 61408214 | missense variant | G/A | snv | 8.2E-04 | 3.5E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 12 | 114674250 | missense variant | G/A | snv | 1.4E-03 | 3.8E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 17 | 61408189 | missense variant | C/A;T | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 12 | 114680962 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 8 | 30719572 | intron variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 1 | 218342968 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1.000 | 6 | 43777657 | missense variant | A/G | snv | 7.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 4 | 110618313 | missense variant | C/A;G;T | snv | 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 1 | 218347653 | intron variant | A/C;G | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 6 | 139373176 | missense variant | T/C | snv | 2.8E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 10 | 130548836 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2014 | 2014 |