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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.100 | 1.000 | 16 | 2004 | 2018 | |||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.100 | 1.000 | 13 | 2002 | 2016 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.800 | 1.000 | 13 | 2009 | 2018 | |||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.780 | 1.000 | 12 | 2007 | 2019 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.080 | 1.000 | 8 | 2006 | 2018 | |||
|
4 | 0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 | 0.820 | 1.000 | 7 | 2010 | 2019 | ||||
|
7 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 0.840 | 1.000 | 7 | 2010 | 2018 | ||||
|
9 | 0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 | 0.840 | 1.000 | 6 | 2010 | 2020 | ||||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.060 | 1.000 | 6 | 2006 | 2019 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.060 | 1.000 | 6 | 2012 | 2016 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
4 | 0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 | 0.060 | 1.000 | 6 | 2006 | 2009 | ||||
|
6 | 0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 | 0.060 | 1.000 | 6 | 2008 | 2019 | ||||
|
8 | 0.790 | 0.200 | 11 | 60095631 | missense variant | A/G | snv | 4.7E-02 | 7.3E-02 | 0.060 | 1.000 | 6 | 2006 | 2016 | |||
|
8 | 0.827 | 0.120 | 7 | 106018005 | missense variant | G/A | snv | 0.19 | 0.21 | 0.060 | 1.000 | 6 | 2015 | 2020 | |||
|
3 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.820 | 1.000 | 5 | 2011 | 2018 | |||
|
27 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 0.050 | 1.000 | 5 | 2011 | 2016 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.050 | 1.000 | 5 | 2011 | 2020 | ||||
|
9 | 0.790 | 0.360 | 17 | 39909987 | intron variant | T/C | snv | 0.48 | 0.820 | 1.000 | 5 | 2010 | 2016 | ||||
|
12 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.720 | 1.000 | 5 | 2010 | 2012 | |||||
|
8 | 0.851 | 0.120 | 2 | 241759225 | intron variant | G/A | snv | 0.27 | 0.700 | 1.000 | 5 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 | 0.810 | 1.000 | 5 | 2010 | 2014 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.050 | 1.000 | 5 | 2010 | 2017 | |||
|
10 | 0.752 | 0.440 | 11 | 112150193 | synonymous variant | T/A;G | snv | 4.2E-06; 0.29 | 0.050 | 1.000 | 5 | 2003 | 2019 | ||||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.720 | 1.000 | 5 | 2014 | 2019 |