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 | 0.080 | 5 | 148645656 | non coding transcript exon variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 8 | 11722293 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 12 | 10908523 | missense variant | T/A;C | snv | 4.0E-06; 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 3634021 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 19 | 3685118 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 3656654 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
12 | 0.790 | 0.120 | 17 | 45802681 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 4 | 55453183 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 11729725 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 4 | 46080161 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.060 | 1.000 | 6 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 99341085 | intron variant | C/T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 3679742 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.160 | 8 | 11730972 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 148541962 | intron variant | T/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.080 | 11 | 18025708 | splice region variant | G/A;T | snv | 0.39 | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.070 | 0.857 | 7 | 2010 | 2018 | |||
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 19 | 3653527 | synonymous variant | C/A;T | snv | 8.0E-06; 0.57 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 4 | 46270789 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 12 | 27402904 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 4 | 55452605 | 3 prime UTR variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.851 | 0.080 | 4 | 46312576 | synonymous variant | T/C | snv | 0.40 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.882 | 0.080 | 4 | 46303716 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 21 | 37840718 | intron variant | G/A | snv | 0.59 | 0.58 | 0.010 | 1.000 | 1 | 2011 | 2011 |