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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
7 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2015 | |||
|
1 | 1.000 | 0.040 | 10 | 67864422 | intergenic variant | G/A;C | snv | 0.720 | 1.000 | 3 | 2018 | 2019 | |||||
|
6 | 0.827 | 0.120 | 12 | 84170289 | intron variant | G/A | snv | 0.52 | 0.720 | 1.000 | 3 | 2011 | 2017 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 0.333 | 3 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.120 | 17 | 45818213 | intron variant | C/T | snv | 0.86 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.030 | 1.000 | 3 | 2009 | 2016 | ||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2013 | |||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 104851081 | intron variant | A/G | snv | 0.74 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 0.827 | 0.120 | 5 | 88367793 | intron variant | C/T | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
3 | 0.882 | 0.040 | 12 | 2311360 | intron variant | G/A | snv | 0.77 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 72474590 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
12 | 0.776 | 0.160 | 10 | 60420054 | intron variant | C/T | snv | 7.5E-02 | 0.710 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2014 | 2019 | |||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 18 | 53088362 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
11 | 0.807 | 0.080 | 1 | 11801287 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 156254801 | non coding transcript exon variant | C/T | snv | 0.73 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 135446760 | stop gained | T/A;C | snv | 0.51 | 0.020 | 0.500 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 18 | 55431781 | intron variant | G/C | snv | 0.55 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
2 | 1.000 | 0.040 | 18 | 37558282 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 2 | 2018 | 2019 |