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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.240 | 15 | 44615487 | stop gained | GTA/ATC | mnv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 4 | 94585691 | synonymous variant | G/A | snv | 0.18 | 0.22 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
8 | 0.776 | 0.080 | 9 | 131190453 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
1 | 1.000 | 0.040 | 1 | 231837888 | intron variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 17 | 7668996 | 3 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 6301521 | missense variant | G/A;T | snv | 9.5E-03; 1.6E-05 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 4 | 6301600 | missense variant | C/T | snv | 7.1E-03 | 2.8E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
2 | 1.000 | 0.040 | 4 | 6301470 | missense variant | G/A;T | snv | 4.0E-03 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
2 | 0.925 | 0.040 | 17 | 75319287 | 3 prime UTR variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 12 | 2246640 | intron variant | C/T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.040 | 13 | 42164846 | intron variant | T/C | snv | 0.13 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
11 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 0.020 | 0.500 | 2 | 2012 | 2012 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 0.500 | 2 | 2011 | 2015 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 0.500 | 2 | 1993 | 2012 | |||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 2008 | 2010 | ||||
|
11 | 0.742 | 0.280 | 18 | 63153338 | intron variant | A/G | snv | 0.65 | 0.030 | 0.667 | 3 | 2011 | 2016 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.833 | 36 | 2004 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.842 | 38 | 2004 | 2019 | |||
|
5 | 0.882 | 0.040 | 10 | 60080073 | intron variant | C/T | snv | 0.30 | 0.070 | 0.857 | 7 | 2009 | 2018 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 0.867 | 15 | 2011 | 2020 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 0.875 | 8 | 2006 | 2014 | |||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.900 | 0.933 | 15 | 2008 | 2018 |