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 | 0.882 | 0.040 | 10 | 62642673 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 8 | 76562310 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 76566304 | intron variant | C/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 8 | 76571195 | intron variant | G/A | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 1 | 155011887 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
29 | 0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||
|
3 | 0.882 | 0.040 | 8 | 115620592 | intron variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.700 | 1.000 | 5 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.040 | 7 | 47406044 | intron variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 7 | 47403036 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 20 | 2301324 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.882 | 0.040 | 20 | 2302811 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 20 | 2309687 | missense variant | C/A;G;T | snv | 0.82; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.040 | 10 | 103916188 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 3 | 98728296 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 7 | 50136567 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 9 | 104103411 | intron variant | G/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 110181866 | intron variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.776 | 0.200 | 5 | 33951588 | missense variant | C/A;G | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.080 | 5 | 33946466 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 19 | 49648429 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.040 | 8 | 100012277 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2014 | 2015 | |||||
|
3 | 0.882 | 0.040 | 8 | 99992792 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 8 | 99999120 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |