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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.020 | < 0.001 | 2 | 2014 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.160 | 21 | 45531871 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.160 | 2 | 215325297 | missense variant | C/G | snv | 0.33 | 0.25 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.080 | 5 | 179836485 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
16 | 0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
18 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
4 | 0.882 | 0.040 | 12 | 68841626 | 3 prime UTR variant | G/A | snv | 0.35 | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
14 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 0.500 | 2 | 2007 | 2009 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.080 | 0.625 | 8 | 2012 | 2018 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.030 | 0.667 | 3 | 2017 | 2018 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 0.750 | 4 | 2007 | 2019 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 0.750 | 4 | 2015 | 2018 | |||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.100 | 0.818 | 11 | 2012 | 2018 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.100 | 0.833 | 12 | 2012 | 2018 | ||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2015 | 2019 |