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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.633 | 0.480 | 12 | 53966448 | intron variant | G/A | snv | 0.57 | 0.040 | 1.000 | 4 | 2015 | 2020 | ||||
|
8 | 0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2015 | 2020 | ||||
|
1 | 1.000 | 0.080 | 4 | 124530209 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 10 | 94309297 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 6 | 159691552 | 3 prime UTR variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
6 | 0.807 | 0.200 | 6 | 159682052 | 3 prime UTR variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 5 | 40726036 | intron variant | C/A;T | snv | 0.24 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 3 | 94389819 | intergenic variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.925 | 0.080 | 11 | 35229771 | 3 prime UTR variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.800 | 0.971 | 34 | 2009 | 2019 | |||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.100 | 1.000 | 16 | 2010 | 2019 | |||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.100 | 0.833 | 12 | 2012 | 2019 | ||||
|
15 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 0.100 | 0.909 | 11 | 2009 | 2019 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.100 | 1.000 | 11 | 2007 | 2019 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.100 | 0.700 | 10 | 2014 | 2019 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.080 | 1.000 | 8 | 2008 | 2019 | |||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.060 | 0.833 | 6 | 2016 | 2019 | ||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.060 | 0.833 | 6 | 2010 | 2019 | |||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.040 | 1.000 | 4 | 2012 | 2019 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.040 | 1.000 | 4 | 2011 | 2019 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.040 | 0.750 | 4 | 2014 | 2019 | ||||
|
19 | 0.716 | 0.240 | 20 | 56386407 | missense variant | T/C | snv | 0.85 | 0.84 | 0.030 | 1.000 | 3 | 2006 | 2019 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
14 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 0.030 | 1.000 | 3 | 2012 | 2019 | |||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.030 | 1.000 | 3 | 2012 | 2019 |