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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.160 | 16 | 86532210 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.160 | 4 | 169585374 | missense variant | C/A;T | snv | 6.0E-05; 2.3E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 5 | 80654926 | missense variant | C/G;T | snv | 8.5E-06; 6.8E-05; 8.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 1 | 12005903 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
39 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 0.925 | 0.240 | 9 | 134340689 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.400 | 11 | 47259211 | 5 prime UTR variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 7 | 16455781 | regulatory region variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.200 | 15 | 30910758 | missense variant | G/A;C | snv | 6.6E-03; 6.0E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.240 | 9 | 34521869 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.320 | 8 | 140551294 | intron variant | G/C;T | snv | 0.57; 4.9E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 16047840 | intron variant | T/C | snv | 4.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.280 | 8 | 39908329 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 80619201 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
25 | 0.695 | 0.280 | 16 | 89919709 | missense variant | C/A;G;T | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 146716848 | intron variant | C/A | snv | 1.7E-02 | 3.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.925 | 0.160 | 15 | 30942802 | 3 prime UTR variant | G/C | snv | 0.27 | 0.020 | 1.000 | 2 | 2016 | 2020 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
12 | 0.763 | 0.440 | 14 | 95087805 | 3 prime UTR variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.677 | 0.680 | 5 | 31401340 | 3 prime UTR variant | A/G;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 7 | 5987311 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |