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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 10 | 100057106 | synonymous variant | C/G;T | snv | 6.6E-03 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.120 | 19 | 10380572 | 5 prime UTR variant | T/C | snv | 5.0E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 19 | 10380646 | upstream gene variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.320 | 8 | 11482672 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 7 | 143138146 | intron variant | A/G | snv | 0.12 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
33 | 0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.120 | 2 | 197916136 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 2 | 197945251 | intron variant | G/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 2 | 198032171 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 2 | 198065082 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 6 | 32427949 | intergenic variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 6 | 33077921 | intron variant | G/A | snv | 9.5E-02 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 6 | 33081886 | intron variant | A/G | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 6 | 33081917 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |