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 | 1.000 | 0.080 | 1 | 161306854 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.200 | X | 101398920 | stop gained | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.925 | 0.200 | X | 101397871 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 9 | 34637994 | upstream gene variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.040 | 7 | 2294751 | intron variant | G/A | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.851 | 0.080 | 9 | 34637693 | missense variant | T/G | snv | 0.20 | 0.18 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 0.667 | 3 | 2005 | 2019 | |||
|
4 | 0.925 | 0.040 | 15 | 60921365 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 19 | 7634461 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.925 | 0.040 | 3 | 186746318 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.827 | 0.200 | 17 | 3577153 | missense variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 |