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 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.080 | 0.875 | 8 | 2007 | 2017 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2005 | 2013 | |||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.080 | 1.000 | 8 | 2009 | 2014 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.070 | 0.857 | 7 | 2007 | 2014 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.070 | 1.000 | 7 | 2010 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.070 | 1.000 | 7 | 2010 | 2015 | |||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.060 | 1.000 | 6 | 2011 | 2017 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 1.000 | 5 | 2012 | 2018 | |||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.040 | 1.000 | 4 | 2003 | 2017 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.040 | 0.750 | 4 | 2011 | 2017 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.040 | 1.000 | 4 | 2011 | 2018 | |||
|
5 | 0.827 | 0.160 | 6 | 43755598 | intergenic variant | A/C | snv | 0.88 | 0.040 | 1.000 | 4 | 2007 | 2019 | ||||
|
31 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2003 | 2017 | |||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
68 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.030 | 1.000 | 3 | 2010 | 2012 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.030 | 1.000 | 3 | 2011 | 2015 | ||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.030 | 1.000 | 3 | 2007 | 2013 | |||
|
11 | 0.742 | 0.320 | 6 | 43771240 | synonymous variant | C/G;T | snv | 8.5E-06; 0.16 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
18 | 0.701 | 0.280 | 5 | 83075927 | intron variant | T/G | snv | 9.2E-02 | 0.030 | 1.000 | 3 | 2009 | 2013 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.030 | 0.667 | 3 | 2017 | 2019 | |||||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.030 | 1.000 | 3 | 2015 | 2016 | ||||
|
19 | 0.701 | 0.520 | 3 | 49358250 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2004 | 2014 | |||||
|
4 | 0.851 | 0.160 | 10 | 102901727 | 3 prime UTR variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.020 | 1.000 | 2 | 2011 | 2013 |