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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2000 | 2015 | |||||
|
5 | 0.882 | 0.120 | 10 | 12286011 | intergenic variant | A/G | snv | 0.17 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.710 | 1.000 | 2 | 2011 | 2018 | ||||
|
28 | 0.752 | 0.280 | 16 | 53767042 | intron variant | T/C | snv | 0.31 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
3 | 0.925 | 0.080 | 9 | 8879118 | intron variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.020 | 1.000 | 2 | 2008 | 2012 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
3 | 0.925 | 0.080 | 17 | 17831426 | intron variant | G/A | snv | 0.45 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
16 | 0.752 | 0.320 | 6 | 35411001 | 5 prime UTR variant | C/T | snv | 0.78 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
16 | 0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
3 | 0.925 | 0.080 | 1 | 160195305 | intron variant | A/C | snv | 0.38 | 0.020 | 0.500 | 2 | 2007 | 2013 | ||||
|
10 | 0.790 | 0.320 | 6 | 137651931 | intergenic variant | A/G | snv | 0.16 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2009 | 2015 | |||||
|
9 | 0.827 | 0.200 | 10 | 113164066 | intron variant | C/T | snv | 0.20 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
8 | 0.882 | 0.080 | 7 | 44196069 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||
|
9 | 0.807 | 0.160 | 22 | 36299201 | intron variant | G/T | snv | 0.78 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
4 | 0.925 | 0.080 | 15 | 62104190 | intergenic variant | A/G | snv | 0.51 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
9 | 0.807 | 0.200 | 6 | 20661019 | intron variant | G/A;C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.020 | 0.500 | 2 | 2006 | 2012 | |||||
|
16 | 0.752 | 0.240 | 11 | 17387490 | missense variant | C/A;T | snv | 0.020 | 0.500 | 2 | 2006 | 2012 | |||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2007 | 2009 | |||||
|
12 | 0.763 | 0.320 | 7 | 28140937 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2009 | 2013 |