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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 1 | 56497149 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 17 | 2214651 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.827 | 0.080 | 13 | 110308365 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.882 | 0.120 | 15 | 90873320 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.080 | 6 | 12901209 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
19 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.120 | 2 | 85582866 | upstream gene variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 10 | 89246097 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
22 | 0.683 | 0.480 | 9 | 22003224 | 3 prime UTR variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.080 | 21 | 34226827 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 15 | 99690400 | missense variant | C/T | snv | 6.1E-04 | 6.5E-04 | 0.700 | 0 | ||||||
|
9 | 0.790 | 0.200 | 10 | 102959339 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.080 | 17 | 17640408 | regulatory region variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 15 | 99690412 | missense variant | G/A | snv | 8.3E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
10 | 0.882 | 0.080 | 19 | 44912383 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 89229352 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.080 | 14 | 99667605 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.080 | 11 | 103789839 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |