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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.900 | 0.996 | 260 | 2005 | 2020 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.100 | 0.980 | 153 | 1997 | 2020 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.100 | 0.957 | 70 | 1998 | 2019 | |||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.900 | 0.925 | 53 | 2006 | 2019 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.100 | 1.000 | 46 | 2005 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.833 | 30 | 2002 | 2020 | |||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.100 | 0.931 | 29 | 2008 | 2019 | ||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.100 | 1.000 | 28 | 2005 | 2019 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.821 | 28 | 2002 | 2019 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.889 | 27 | 1996 | 2019 | |||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.100 | 0.926 | 27 | 2000 | 2017 | |||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.100 | 0.962 | 26 | 2009 | 2020 | ||||
|
9 | 0.776 | 0.160 | 16 | 46662452 | missense variant | C/T | snv | 0.100 | 0.957 | 23 | 2012 | 2019 | |||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.100 | 0.955 | 22 | 2004 | 2020 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.100 | 0.950 | 20 | 2004 | 2019 | ||||
|
9 | 0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 | 0.900 | 1.000 | 19 | 2008 | 2019 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.900 | 1.000 | 16 | 2009 | 2020 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.933 | 15 | 2004 | 2019 | |||
|
3 | 0.925 | 0.080 | 4 | 15735478 | intron variant | C/A;G | snv | 0.43 | 0.880 | 0.846 | 13 | 2011 | 2019 | ||||
|
7 | 0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv | 0.100 | 1.000 | 13 | 2003 | 2017 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.100 | 0.923 | 13 | 2009 | 2019 | |||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.860 | 1.000 | 12 | 2009 | 2018 | |||||
|
3 | 0.882 | 0.080 | 4 | 76277833 | intron variant | C/T | snv | 0.38 | 0.880 | 0.667 | 12 | 2009 | 2017 | ||||
|
6 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 0.100 | 1.000 | 11 | 1999 | 2017 | ||||
|
3 | 0.882 | 0.080 | 18 | 43093415 | intron variant | A/G | snv | 0.33 | 0.890 | 0.909 | 11 | 2012 | 2020 |