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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.040 | 1.000 | 4 | 2006 | 2019 | |||
|
48 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
38 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
23 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 0 | ||||||
|
16 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 0.710 | 1.000 | 2 | 2007 | 2017 | |||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.750 | 1.000 | 5 | 2016 | 2018 | |||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
10 | 0.763 | 0.280 | X | 49246763 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
8 | 0.776 | 0.120 | 3 | 185519292 | missense variant | A/T | snv | 1.6E-04 | 4.9E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
10 | 0.776 | 0.120 | X | 8945785 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.790 | 0.120 | 17 | 45846853 | synonymous variant | T/C | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.080 | 18 | 45220183 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.080 | 1 | 50494849 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.080 | 2 | 176897100 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.080 | 11 | 44389312 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.807 | 0.080 | 1 | 118896200 | intron variant | G/- | del | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 |