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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.760 | 1.000 | 8 | 2011 | 2017 | ||||
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.760 | 1.000 | 8 | 2011 | 2017 | ||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.730 | 1.000 | 5 | 2013 | 2017 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.720 | 1.000 | 5 | 2013 | 2017 | |||||
|
3 | 0.925 | 0.080 | 1 | 159308078 | 3 prime UTR variant | G/A | snv | 0.13 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | ||||
|
4 | 0.851 | 0.280 | 6 | 31162816 | 3 prime UTR variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 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 | ||||
|
8 | 0.827 | 0.160 | 6 | 31264334 | downstream gene variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 6 | 33007157 | synonymous variant | G/A;C | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.280 | 6 | 32220606 | missense variant | T/C | snv | 0.40 | 0.40 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 10 | 94012060 | intergenic variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | |||
|
4 | 0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 8 | 138653967 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 6 | 32739518 | upstream gene variant | G/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 15245360 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 33136398 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.060 | 1.000 | 6 | 2015 | 2018 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.050 | 1.000 | 5 | 2012 | 2015 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.020 | 1.000 | 2 | 2015 | 2017 |