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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.090 | 1.000 | 9 | 1999 | 2013 | |||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2000 | 2000 | |||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2011 | |||||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 18 | 60371844 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 1 | 247438055 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 10 | 87053380 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 14 | 80200883 | 3 prime UTR variant | A/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 12 | 102480984 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 5 | 143342788 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 5 | 75362479 | intron variant | A/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 11797032 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 16 | 1792152 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.080 | 6 | 134167822 | downstream gene variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 |