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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 14 | 102865271 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
15 | 0.742 | 0.320 | 12 | 130876696 | 3 prime UTR variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 17 | 78137827 | intron variant | G/A;T | snv | 0.11; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.827 | 0.160 | 5 | 177089630 | missense variant | G/A;T | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.080 | 5 | 177094455 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 17 | 78097596 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.851 | 0.280 | 19 | 10279982 | intron variant | C/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.925 | 0.120 | 19 | 10286727 | non coding transcript exon variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 73425293 | synonymous variant | C/T | snv | 0.71 | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
24 | 0.662 | 0.640 | 14 | 95087025 | 3 prime UTR variant | A/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 20 | 3863021 | intron variant | C/A | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 5 | 177104771 | intergenic variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.120 | 1 | 156670593 | missense variant | C/A;G | snv | 4.0E-06; 2.4E-03 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.320 | 12 | 53500681 | non coding transcript exon variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |