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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 11 | 121618707 | intron variant | G/A | snv | 0.84 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.080 | 7 | 100374211 | missense variant | A/C;G | snv | 4.0E-06; 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 11 | 121577381 | synonymous variant | T/G | snv | 0.32 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 17 | 3406923 | upstream gene variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.790 | 0.120 | 11 | 121522975 | missense variant | G/A;T | snv | 7.2E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 6 | 31497781 | intron variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 6 | 32579102 | missense variant | A/G | snv | 4.2E-04 | 2.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 6 | 41194780 | missense variant | T/C | snv | 0.33 | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.080 | 5 | 150249081 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
22 | 0.708 | 0.400 | 7 | 150998541 | missense variant | C/T | snv | 4.1E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
9 | 0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 4 | 56931248 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 5 | 150261592 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 17 | 2312964 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.742 | 0.360 | 3 | 10286769 | missense variant | T/A | snv | 0.10 | 6.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.776 | 0.200 | 7 | 73702147 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | X | 137182822 | intergenic variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |