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 | 0.120 | 2 | 136149600 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 10 | 63401790 | intron variant | T/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 10 | 63383798 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 10 | 63296952 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 10 | 63241673 | intron variant | A/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.724 | 0.240 | 8 | 137124061 | regulatory region variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.716 | 0.240 | 5 | 56148856 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.716 | 0.240 | 5 | 40487168 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 16 | 50270338 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 4 | 4990640 | regulatory region variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 4 | 182824168 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.120 | 7 | 117737591 | intron variant | G/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
14 | 0.724 | 0.240 | 5 | 159402286 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 15 | 67171953 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.320 | 18 | 12877061 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.724 | 0.240 | 10 | 37303610 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 63239252 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.724 | 0.240 | 9 | 12785074 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.724 | 0.240 | 1 | 197406337 | intron variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
26 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |