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 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.280 | 6 | 31162816 | 3 prime UTR variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.160 | 6 | 31264334 | downstream gene variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 31267728 | downstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.724 | 0.200 | 6 | 31398818 | upstream gene variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
17 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.280 | 6 | 31575186 | upstream gene variant | G/A | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.320 | 6 | 31576050 | intron variant | G/A | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.807 | 0.280 | 6 | 32220606 | missense variant | T/C | snv | 0.40 | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.807 | 0.200 | 6 | 32698518 | intergenic variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.730 | 1.000 | 5 | 2013 | 2017 | ||||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.200 | 6 | 32739518 | upstream gene variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.720 | 1.000 | 5 | 2013 | 2017 | |||||
|
2 | 0.925 | 0.200 | 6 | 33007157 | synonymous variant | G/A;C | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.760 | 1.000 | 8 | 2011 | 2017 |