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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.080 | 0.875 | 8 | 2010 | 2020 | ||||
|
54 | 0.602 | 0.680 | 20 | 46007337 | upstream gene variant | C/T | snv | 0.14 | 0.060 | 1.000 | 6 | 2015 | 2020 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.050 | 0.800 | 5 | 2010 | 2020 | ||||
|
11 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.050 | 1.000 | 5 | 2013 | 2020 | ||||
|
2 | 1.000 | 0.080 | 5 | 60206693 | intron variant | A/G | snv | 0.57 | 0.050 | 0.800 | 5 | 2005 | 2020 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.040 | 0.750 | 4 | 2013 | 2020 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.030 | 1.000 | 3 | 2006 | 2020 | ||||
|
3 | 0.925 | 0.080 | 5 | 60491989 | non coding transcript exon variant | G/A;T | snv | 0.020 | 0.500 | 2 | 2019 | 2020 | |||||
|
5 | 0.851 | 0.160 | 18 | 58451261 | non coding transcript exon variant | C/A;T | snv | 0.72 | 0.020 | 0.500 | 2 | 2019 | 2020 | ||||
|
1 | 1.000 | 0.080 | 9 | 21077717 | synonymous variant | G/A | snv | 0.33 | 0.35 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
4 | 0.882 | 0.200 | 1 | 154408627 | intron variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148719716 | intron variant | T/A;C | snv | 0.89 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
5 | 0.882 | 0.120 | 3 | 148697758 | upstream gene variant | A/G | snv | 0.20 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
18 | 0.695 | 0.480 | 21 | 25572410 | intron variant | T/A | snv | 7.5E-02 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
5 | 0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 1.000 | 0.080 | 1 | 159705143 | non coding transcript exon variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 1.000 | 0.080 | 16 | 73034779 | intron variant | G/A | snv | 0.17 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 9 | 21078953 | upstream gene variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.923 | 52 | 1999 | 2019 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 1.000 | 20 | 2005 | 2019 | ||||
|
4 | 0.882 | 0.120 | 12 | 674318 | downstream gene variant | G/A;C | snv | 0.100 | 0.857 | 14 | 2009 | 2019 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.100 | 0.929 | 14 | 2000 | 2019 | |||
|
6 | 0.827 | 0.200 | 12 | 666033 | upstream gene variant | G/A | snv | 0.25 | 0.100 | 0.846 | 13 | 2011 | 2019 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.080 | 0.875 | 8 | 2014 | 2019 |