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 | 0.120 | 19 | 1650135 | intron variant | A/C;G | snv | 6.7E-06; 0.54 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
47 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.810 | 1.000 | 1 | 2012 | 2014 | |||
|
3 | 0.882 | 0.120 | 6 | 33716536 | upstream gene variant | A/G;T | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.030 | 1.000 | 3 | 2012 | 2019 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
187 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2005 | 2012 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 0.500 | 2 | 2013 | 2018 | ||||
|
37 | 0.633 | 0.600 | 3 | 122284910 | missense variant | G/T | snv | 0.13 | 0.11 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
21 | 0.708 | 0.400 | 6 | 38682852 | missense variant | T/A;G | snv | 0.36 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2011 | 2012 | |||||
|
59 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
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 | 0.240 | 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 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.851 | 0.160 | 16 | 68822081 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 3 | 172524100 | upstream gene variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 |