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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.683 | 0.440 | 12 | 6333477 | missense variant | C/G;T | snv | 4.0E-06; 1.3E-02 | 0.100 | 0.909 | 11 | 2007 | 2018 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.900 | 10 | 2005 | 2018 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.770 | 1.000 | 8 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 60993140 | intron variant | C/A;G | snv | 0.850 | 1.000 | 7 | 2009 | 2016 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.050 | 0.600 | 5 | 2004 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 57739473 | intron variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2009 | 2018 | |||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.040 | 0.250 | 4 | 2011 | 2013 | ||||
|
3 | 0.925 | 0.120 | 6 | 29666235 | missense variant | A/G;T | snv | 0.95; 4.1E-06 | 0.040 | 1.000 | 4 | 1997 | 2020 | ||||
|
42 | 0.620 | 0.680 | X | 49261784 | intron variant | G/A;T | snv | 0.040 | 1.000 | 4 | 2015 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 0.500 | 4 | 2007 | 2019 | |||||
|
3 | 0.925 | 0.160 | 3 | 105867870 | intron variant | T/A;C | snv | 0.830 | 0.750 | 4 | 2010 | 2017 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2015 | |||||
|
2 | 0.925 | 0.120 | 19 | 6668961 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2013 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.810 | 1.000 | 3 | 2011 | 2018 | |||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.030 | 1.000 | 3 | 2007 | 2020 | ||||
|
2 | 0.925 | 0.160 | 20 | 63778360 | intron variant | C/G;T | snv | 0.810 | 1.000 | 3 | 2011 | 2019 | |||||
|
7 | 0.827 | 0.280 | 6 | 127957653 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2011 | 2019 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 0.925 | 0.120 | 12 | 57670954 | upstream gene variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 116495665 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2011 | |||||
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2019 | |||||
|
2 | 1.000 | 0.080 | 3 | 121824730 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.710 | 1.000 | 2 | 2010 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 122050675 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2011 | 2016 |