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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.120 | 12 | 108624122 | missense variant | C/T | snv | 0.11 | 0.14 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
14 | 0.752 | 0.240 | 22 | 19968597 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
25 | 0.683 | 0.560 | 5 | 35874473 | missense variant | C/T | snv | 0.23 | 0.21 | 0.900 | 0.909 | 22 | 2007 | 2018 | |||
|
25 | 0.662 | 0.440 | 10 | 6057082 | intron variant | T/C | snv | 0.18 | 0.900 | 1.000 | 14 | 2007 | 2019 | ||||
|
7 | 0.807 | 0.240 | 6 | 32445274 | downstream gene variant | A/G | snv | 0.90 | 0.890 | 1.000 | 12 | 2007 | 2018 | ||||
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.100 | 0.909 | 11 | 2007 | 2018 | ||||
|
3 | 0.882 | 0.160 | 10 | 6060049 | intron variant | C/T | snv | 0.11 | 0.850 | 1.000 | 7 | 2007 | 2018 | ||||
|
2 | 0.925 | 0.160 | 6 | 32368410 | intron variant | T/C | snv | 0.83 | 0.810 | 1.000 | 4 | 2007 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 0.500 | 4 | 2007 | 2019 | |||||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.030 | 0.667 | 3 | 2007 | 2019 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.030 | 1.000 | 3 | 2007 | 2020 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2007 | 2011 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
2 | 0.925 | 0.120 | 21 | 41426103 | 5 prime UTR variant | C/A | snv | 0.14 | 0.020 | 1.000 | 2 | 2007 | 2017 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 0.500 | 2 | 2007 | 2019 | |||
|
11 | 0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2007 | 2015 | |||||
|
5 | 0.925 | 0.080 | 6 | 31279290 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2007 | 2010 | |||||
|
1 | 1.000 | 0.080 | 11 | 15626589 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 32950080 | non coding transcript exon variant | A/G | snv | 0.93 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 6 | 29726650 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 10 | 67504839 | intron variant | G/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.160 | 3 | 184137637 | missense variant | G/A | snv | 2.1E-04 | 2.7E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 6 | 32950203 | non coding transcript exon variant | G/A | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 1.000 | 0.080 | 5 | 177313243 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | X | 103786682 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 |