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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.649 | 0.440 | 12 | 53968051 | non coding transcript exon variant | G/A | snv | 0.93 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
37 | 0.653 | 0.360 | 15 | 78590583 | missense variant | G/A | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
26 | 0.662 | 0.440 | 17 | 7675076 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
26 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.677 | 0.400 | 17 | 7675995 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.320 | 17 | 7675077 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.440 | 17 | 7674953 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.689 | 0.440 | 17 | 7674954 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.689 | 0.400 | 17 | 7675075 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.695 | 0.320 | 17 | 7675996 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.695 | 0.440 | 17 | 7673823 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.695 | 0.480 | 17 | 7674944 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
21 | 0.695 | 0.280 | 17 | 7674873 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 1991 | 1991 | |||||
|
20 | 0.701 | 0.360 | 17 | 7673764 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.280 | 17 | 7675125 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |