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 | 0.120 | 3 | 27752141 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 0.882 | 0.120 | 3 | 122081640 | intron variant | A/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.100 | 0.895 | 19 | 2013 | 2019 | |||
|
3 | 0.882 | 0.160 | 1 | 192571891 | intron variant | G/A | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 17 | 63929438 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 3 | 124206424 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 19 | 12702869 | missense variant | T/C;G | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 20 | 46073481 | intron variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 16 | 3745362 | splice region variant | G/A | snv | 7.7E-02 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.200 | 1 | 2622185 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 43577066 | missense variant | C/T | snv | 1.8E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
19 | 0.708 | 0.400 | 17 | 7674262 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.742 | 0.440 | 17 | 7674256 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 2 | 25246231 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 13 | 50267187 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.677 | 0.400 | 17 | 7673826 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.030 | 0.667 | 3 | 2013 | 2018 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.020 | 0.500 | 2 | 2013 | 2018 | ||||
|
2 | 0.925 | 0.200 | 22 | 28710038 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.742 | 0.480 | 10 | 67883584 | upstream gene variant | T/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 0.030 | 1.000 | 3 | 2007 | 2017 |