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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 15 | 51333026 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.040 | 10 | 95037713 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | X | 15590376 | intron variant | T/G | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
5 | 0.925 | 0.080 | 11 | 2165105 | intron variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
18 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 22 | 35387420 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 12 | 47870045 | intron variant | G/T | snv | 0.36 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | X | 129653118 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 1 | 12002148 | intron variant | A/G | snv | 0.65 | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.040 | 1 | 12002304 | intron variant | C/A;G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.200 | 12 | 47863983 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 31367579 | intron variant | C/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 31372839 | intron variant | C/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 1 | 59901568 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 18 | 58316098 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 42153706 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 2 | 27084901 | intron variant | G/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 1 | 11986006 | intron variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 204155737 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 230708450 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 3 | 148710569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.160 | 20 | 54164712 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
8 | 0.790 | 0.280 | 6 | 131572419 | intron variant | G/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 6 | 108587315 | intron variant | G/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | X | 45747602 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |