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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.240 | 11 | 2148913 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 19 | 45147128 | 3 prime UTR variant | C/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 19 | 45132943 | intron variant | C/T | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.360 | 6 | 90248512 | intron variant | C/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 169780132 | downstream gene variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 5 | 90250292 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 19 | 44867581 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.200 | 10 | 6055320 | intron variant | T/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.200 | 12 | 56018703 | intron variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 19 | 44848489 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
13 | 0.742 | 0.480 | 12 | 56088396 | intron variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 8 | 27622508 | regulatory region variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.925 | 0.080 | 19 | 44738850 | intergenic variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 |