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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.100 | 0.921 | 38 | 1993 | 2019 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.100 | 0.952 | 21 | 1995 | 2019 | ||||
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.900 | 0.889 | 18 | 2007 | 2018 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.100 | 1.000 | 16 | 2004 | 2018 | |||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.840 | 0.929 | 14 | 2010 | 2019 | ||||
|
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 | ||||
|
10 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.860 | 0.900 | 10 | 2008 | 2018 | |||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.090 | 0.889 | 9 | 2007 | 2018 | |||||
|
33 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 0.090 | 0.889 | 9 | 2009 | 2019 | |||||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.090 | 0.778 | 9 | 1999 | 2015 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.080 | 0.750 | 8 | 2004 | 2020 | ||||
|
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 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.060 | 0.667 | 6 | 2002 | 2012 | ||||
|
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 | ||||
|
7 | 0.807 | 0.280 | 7 | 7968245 | intron variant | G/A;C | snv | 0.060 | 0.667 | 6 | 2015 | 2019 | |||||
|
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 |