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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.672 | 0.560 | 4 | 122456825 | upstream gene variant | A/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
22 | 0.882 | 0.200 | 9 | 133263862 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.807 | 0.320 | 16 | 11086016 | intron variant | A/G | snv | 0.37 | 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 | ||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 1.000 | 0.120 | 22 | 21662102 | non coding transcript exon variant | A/G | snv | 0.98 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 6 | 20657333 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 11 | 86109035 | regulatory region variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 15 | 38614840 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.752 | 0.560 | 1 | 157701026 | upstream gene variant | A/G | snv | 0.57 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 | 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 | |||||
|
9 | 0.776 | 0.280 | 11 | 2160994 | splice region variant | A/T | snv | 0.73 | 0.60 | 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 | |||
|
5 | 0.851 | 0.240 | 21 | 42421219 | intron variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 19 | 44750911 | intron variant | C/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 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 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 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 | ||||
|
2 | 1.000 | 0.080 | 19 | 45132943 | intron variant | C/T | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 2 | 169780132 | downstream gene variant | C/T | snv | 0.45 | 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 |