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 | 0.100 | 0.879 | 33 | 1999 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.857 | 21 | 2003 | 2019 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.100 | 0.889 | 18 | 2000 | 2017 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.100 | 0.818 | 11 | 2003 | 2014 | |||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.070 | 1.000 | 7 | 2007 | 2017 | |||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.070 | 0.857 | 7 | 2008 | 2013 | ||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.040 | 0.750 | 4 | 2006 | 2013 | |||||
|
3 | 0.882 | 0.160 | 21 | 43072114 | missense variant | C/A;T | snv | 8.1E-06; 8.1E-06 | 0.040 | 1.000 | 4 | 2010 | 2017 | ||||
|
3 | 0.882 | 0.160 | 21 | 43066299 | missense variant | C/T | snv | 8.0E-06 | 0.040 | 1.000 | 4 | 2010 | 2017 | ||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.030 | 1.000 | 3 | 2005 | 2013 | ||||
|
12 | 0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.030 | 0.667 | 3 | 2006 | 2013 | |||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2005 | 2013 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2013 | 2017 | ||||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.020 | 0.500 | 2 | 2008 | 2012 | ||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
18 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
6 | 0.807 | 0.160 | 5 | 173235023 | missense variant | C/G | snv | 1.1E-03 | 7.1E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 10 | 34275364 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 21 | 38824464 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 21 | 45531505 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.807 | 0.320 | 17 | 17583205 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.827 | 0.240 | 3 | 53823776 | missense variant | A/C;T | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 |