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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 5 | 151087628 | 5 prime UTR variant | G/C;T | snv | 4.8E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||
|
4 | 0.851 | 0.160 | 5 | 96766240 | intron variant | A/G | snv | 0.61 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.120 | 7 | 3089155 | intron variant | T/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 152619708 | downstream gene variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2015 | 2018 | |||||
|
5 | 0.827 | 0.240 | 6 | 137878280 | intron variant | G/T | snv | 0.58 | 0.710 | 1.000 | 2 | 2015 | 2015 | ||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.040 | 8 | 107239685 | intergenic variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 4 | 102593288 | non coding transcript exon variant | C/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 1 | 247459055 | upstream gene variant | A/G | snv | 0.81 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.732 | 0.560 | 9 | 117702866 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 4978778 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 10 | 79273128 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 14 | 35383280 | downstream gene variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 2 | 162404181 | intron variant | T/C | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 5 | 151098757 | downstream gene variant | G/A | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 3 | 46371068 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 22 | 21574352 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 8 | 6529226 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 8 | 6537300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 10 | 73839369 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 73894114 | intergenic variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 |