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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.120 | 6 | 11615072 | intergenic variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | X | 155050522 | non coding transcript exon variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 1 | 173914570 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 2 | 127427219 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 2 | 127428522 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 173903969 | missense variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 2 | 127423123 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.120 | 10 | 69458890 | intron variant | G/C | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 2 | 127421337 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.851 | 0.120 | 4 | 186292729 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.851 | 0.120 | 9 | 133274084 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.120 | 3 | 88998609 | intergenic variant | G/T | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.120 | 2 | 42372465 | intron variant | T/G | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.120 | 4 | 154623920 | upstream gene variant | A/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.200 | 19 | 10632450 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.732 | 0.240 | 20 | 23048087 | missense variant | G/A;T | snv | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 169546573 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 1 | 169555300 | missense variant | T/C | snv | 6.9E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 1 | 11792279 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.160 | 4 | 154585712 | splice acceptor variant | G/A;C;T | snv | 4.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.320 | 6 | 160738593 | missense variant | G/A | snv | 1.4E-03 | 3.5E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 |