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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 1.000 | 3 | 1998 | 2006 | |||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
24 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.800 | 1.000 | 14 | 1990 | 2017 | |||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
18 | 0.724 | 0.280 | 12 | 10160849 | missense variant | C/G | snv | 0.11 | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
16 | 0.732 | 0.400 | 8 | 19954222 | missense variant | G/A;C | snv | 1.9E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
16 | 0.732 | 0.400 | 8 | 27516348 | missense variant | G/A | snv | 0.12 | 0.10 | 0.700 | 0 | ||||||
|
12 | 0.752 | 0.240 | 19 | 11116928 | missense variant | G/A | snv | 4.4E-05 | 4.9E-05 | 0.810 | 1.000 | 1 | 2009 | 2009 | |||
|
14 | 0.752 | 0.200 | 19 | 11105407 | stop gained | C/A;G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
11 | 0.763 | 0.200 | 19 | 11120436 | missense variant | C/A;T | snv | 2.8E-05 | 4.2E-05 | 0.880 | 1.000 | 38 | 1989 | 2018 | |||
|
13 | 0.763 | 0.200 | 19 | 11105588 | stop gained | G/A;C;T | snv | 1.6E-05; 1.6E-05; 8.1E-06 | 0.800 | 1.000 | 31 | 1989 | 2017 | ||||
|
12 | 0.763 | 0.280 | 5 | 75355259 | non coding transcript exon variant | A/G | snv | 0.50 | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
12 | 0.763 | 0.280 | 1 | 11847591 | missense variant | C/T | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 |