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 | 0.080 | 10 | 119551536 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 8 | 20208538 | intron variant | G/A;C;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 4 | 120232669 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.120 | 6 | 150885942 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.080 | 1 | 7809900 | missense variant | A/G | snv | 5.6E-03 | 5.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
11 | 0.807 | 0.120 | 22 | 19965038 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.120 | 2 | 66554321 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.790 | 0.240 | 10 | 87945672 | non coding transcript exon variant | G/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.827 | 0.160 | 9 | 137136549 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.807 | 0.280 | 10 | 87966988 | 3 prime UTR variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.200 | 16 | 55498391 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
14 | 0.763 | 0.320 | 17 | 30197993 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.851 | 0.160 | 20 | 63349752 | synonymous variant | C/T | snv | 0.48 | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 4 | 55453183 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.882 | 0.080 | X | 151181399 | missense variant | A/G | snv | 0.45 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 0.080 | 1 | 162115519 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2015 | 2015 |