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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.800 | 1.000 | 5 | 2012 | 2019 | ||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.800 | 1.000 | 5 | 2009 | 2018 | |||||
|
11 | 0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv | 0.800 | 1.000 | 5 | 2010 | 2019 | |||||
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.800 | 1.000 | 5 | 2012 | 2019 | |||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||||
|
4 | 1 | 62583880 | intron variant | A/C;G | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||||
|
21 | 0.776 | 0.160 | 12 | 120978847 | missense variant | A/C;T | snv | 0.35 | 0.800 | 1.000 | 4 | 2010 | 2018 | ||||
|
16 | 0.790 | 0.200 | 15 | 58431476 | intron variant | C/G;T | snv | 0.30 | 0.800 | 1.000 | 4 | 2012 | 2018 | ||||
|
5 | 10 | 112174128 | intron variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||||
|
2 | 6 | 34578783 | upstream gene variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2010 | 2018 | |||||||
|
8 | 1.000 | 0.040 | 9 | 133273983 | intron variant | A/G | snv | 0.800 | 1.000 | 4 | 2013 | 2019 | |||||
|
22 | 0.882 | 0.160 | 9 | 133279427 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
7 | 16 | 56972678 | intron variant | C/G;T | snv | 0.800 | 1.000 | 4 | 2012 | 2019 | |||||||
|
5 | 19 | 44909976 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2017 | 2019 | |||||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
8 | 0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
6 | 0.925 | 0.040 | 7 | 44539581 | synonymous variant | G/A;C | snv | 4.0E-06; 0.25 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||
|
14 | 0.790 | 0.160 | 19 | 11100236 | stop gained | C/A;G;T | snv | 1.6E-05; 8.9E-02 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 55058182 | missense variant | G/A;C | snv | 7.2E-03 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 11 | 116748357 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
6 | 8 | 125469505 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2019 | |||||||
|
26 | 0.708 | 0.400 | 11 | 116791691 | missense variant | G/A;C | snv | 3.0E-05; 6.8E-02 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 3 | 2012 | 2018 |