| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 3 | 12288912 | 5 prime UTR variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 9593742 | intron variant | A/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 18 | 9841518 | non coding transcript exon variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 68376888 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 20 | 3977969 | intron variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 79310483 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 186933001 | intron variant | A/G | snv | 0.88 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 1 | 209942767 | intron variant | G/A | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 85725825 | missense variant | G/C;T | snv | 0.59; 3.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 140018347 | intron variant | C/G;T | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 80146584 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 6 | 32338202 | intron variant | G/T | snv | 0.83 | 0.800 | 1.000 | 1 | 2010 | 2010 |