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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.800 | 1.000 | 18 | 2010 | 2019 | |||
|
5 | 0.851 | 0.080 | 21 | 34985564 | intron variant | A/G;T | snv | 0.75 | 0.720 | 1.000 | 3 | 2012 | 2019 | ||||
|
7 | 0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 55174735 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.080 | 2 | 201298088 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 17 | 7654516 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 6 | 32621489 | regulatory region variant | G/A | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 21997016 | intron variant | T/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 5 | 139481561 | synonymous variant | C/G;T | snv | 0.62; 4.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 13 | 2003 | 2019 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.090 | 1.000 | 9 | 2009 | 2019 | |||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.080 | 1.000 | 8 | 2009 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.070 | 1.000 | 7 | 2003 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2003 | 2017 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2003 | 2017 | |||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.060 | 1.000 | 6 | 2010 | 2019 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.060 | 1.000 | 6 | 2002 | 2016 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.050 | 0.800 | 5 | 2013 | 2019 | ||||
|
10 | 0.807 | 0.280 | 10 | 87966988 | 3 prime UTR variant | T/C | snv | 0.33 | 0.050 | 1.000 | 5 | 2012 | 2020 | ||||
|
13 | 0.752 | 0.160 | 20 | 773867 | intron variant | C/T | snv | 5.9E-02 | 0.040 | 0.750 | 4 | 2015 | 2019 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.040 | 1.000 | 4 | 2002 | 2012 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.040 | 0.750 | 4 | 2010 | 2019 |