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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.929 | 14 | 2002 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.909 | 11 | 2002 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.909 | 11 | 2002 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.070 | 0.857 | 7 | 2012 | 2018 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.050 | 0.200 | 5 | 2012 | 2017 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.040 | 0.750 | 4 | 2011 | 2018 | ||||
|
10 | 0.827 | 0.120 | 6 | 31422633 | intron variant | T/C;G | snv | 0.720 | 1.000 | 3 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.080 | 6 | 33121846 | intron variant | C/A;G | snv | 0.720 | 1.000 | 3 | 2013 | 2018 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2020 | ||||
|
3 | 0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2013 | 2016 | |||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
15 | 0.742 | 0.280 | 4 | 186083063 | missense variant | C/A;T | snv | 0.30 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
23 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2004 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 19 | 6746039 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.080 | 15 | 25036439 | non coding transcript exon variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.807 | 0.160 | 9 | 35681125 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.776 | 0.160 | 22 | 21772875 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 19 | 4652810 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.080 | 1 | 241847325 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.080 | 11 | 126406065 | 5 prime UTR variant | T/A;C | snv | 6.4E-06; 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.807 | 0.120 | 2 | 113236840 | non coding transcript exon variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |