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 | 0.030 | 1.000 | 3 | 2009 | 2016 | |||
|
2 | 0.925 | 0.040 | 1 | 8699495 | intron variant | T/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.040 | 1 | 171652139 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.040 | 1 | 171652385 | missense variant | C/T | snv | 0.15 | 0.11 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
4 | 0.851 | 0.040 | 1 | 171638703 | missense variant | G/A;C | snv | 4.0E-06; 7.6E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.040 | 1 | 237933586 | intergenic variant | A/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 2 | 105886129 | intron variant | T/A | snv | 0.30 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 2 | 45419685 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 74835743 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 3 | 193637313 | intron variant | T/A;C | snv | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 3 | 16354161 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.080 | 4 | 147542603 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 5 | 111103810 | missense variant | A/C;G | snv | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 6 | 53258320 | regulatory region variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
3 | 0.882 | 0.040 | 7 | 116508316 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.040 | 7 | 116522675 | upstream gene variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 116576975 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 8 | 104946405 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2008 | 2019 |