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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 0.030 | 0.667 | 3 | 2011 | 2019 | ||||
|
5 | 0.851 | 0.200 | 17 | 45792776 | intron variant | C/T | snv | 0.43 | 0.030 | 1.000 | 3 | 2012 | 2016 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 17 | 45808001 | intron variant | G/T | snv | 0.44 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 88149832 | intron variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 1 | 22068132 | intron variant | A/G | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
15 | 0.716 | 0.400 | 12 | 68157629 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
9 | 0.790 | 0.280 | 5 | 132656717 | intron variant | A/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.851 | 0.120 | 7 | 8678450 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 149966412 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 30654644 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 7 | 30654159 | intron variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.752 | 0.400 | 2 | 135851076 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
31 | 0.658 | 0.440 | 3 | 52226766 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 18038806 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 123130312 | intron variant | A/G | snv | 1.2E-02 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 32611931 | intergenic variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 1.000 | 3 | 2011 | 2017 |