| 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 | 6 | 106183905 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 9 | 22206988 | intron variant | C/A;T | snv | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.280 | 20 | 50581336 | missense variant | C/T | snv | 4.8E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 17308901 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 1 | 17347727 | intron variant | C/T | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.763 | 0.200 | 20 | 54169680 | synonymous variant | G/A | snv | 0.49 | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 1 | 17304110 | upstream gene variant | G/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.160 | 5 | 1297373 | upstream gene variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.080 | 9 | 5465130 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 20 | 50433551 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 6 | 106238552 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
20 | 0.689 | 0.400 | 9 | 5468257 | 3 prime UTR variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 16 | 57358821 | missense variant | A/C;T | snv | 0.92 | 0.94 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.080 | 1 | 65469811 | intron variant | G/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 6 | 106312722 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.160 | 9 | 21816529 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 10 | 93991070 | intergenic variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.120 | X | 123912065 | 3 prime UTR variant | C/T | snv | 0.25 | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 6 | 40379813 | non coding transcript exon variant | C/T | snv | 9.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 6 | 28606638 | intron variant | T/C | snv | 0.89 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.120 | X | 123911791 | 3 prime UTR variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 |