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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.100 | 0.952 | 21 | 1995 | 2019 | ||||
|
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 | ||||
|
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 | ||||
|
7 | 0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 | 0.840 | 1.000 | 7 | 2010 | 2018 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.060 | 0.667 | 6 | 2002 | 2012 | ||||
|
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 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.050 | 1.000 | 5 | 2011 | 2020 | ||||
|
12 | 0.752 | 0.360 | 17 | 39884510 | intergenic variant | G/A;T | snv | 0.720 | 1.000 | 5 | 2010 | 2012 | |||||
|
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 | ||||
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.050 | 1.000 | 5 | 2014 | 2020 | ||||
|
4 | 0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv | 0.740 | 1.000 | 5 | 2008 | 2018 | |||||
|
4 | 0.882 | 0.080 | 9 | 6209697 | intergenic variant | A/G;T | snv | 0.810 | 1.000 | 5 | 2010 | 2019 | |||||
|
8 | 0.776 | 0.320 | 16 | 27362551 | missense variant | A/C;G;T | snv | 0.13; 1.2E-04; 3.6E-05 | 0.040 | 1.000 | 4 | 2010 | 2016 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.040 | 1.000 | 4 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 102337157 | 5 prime UTR variant | G/A;T | snv | 0.820 | 1.000 | 4 | 2011 | 2019 | |||||
|
5 | 0.851 | 0.160 | 7 | 7967878 | 3 prime UTR variant | T/A;C | snv | 0.040 | 0.750 | 4 | 2014 | 2019 | |||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
6 | 0.851 | 0.160 | 17 | 39932164 | intron variant | T/A;C | snv | 0.720 | 1.000 | 4 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.120 | 17 | 39966427 | missense variant | G/A;C;T | snv | 4.1E-04; 4.2E-06; 0.52 | 0.820 | 0.750 | 4 | 2011 | 2015 | ||||
|
5 | 0.827 | 0.120 | 16 | 27360785 | missense variant | G/A;C | snv | 2.0E-05; 4.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2010 |