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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||
|
5 | 0.925 | 0.080 | 14 | 61457521 | missense variant | G/A | snv | 3.1E-02 | 1.6E-02 | 0.720 | 1.000 | 3 | 2007 | 2014 | |||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2012 | 2016 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 1.000 | 3 | 2014 | 2017 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.030 | 1.000 | 3 | 2001 | 2008 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.030 | 1.000 | 3 | 2009 | 2014 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
2 | 1.000 | 6 | 44626422 | intergenic variant | T/G | snv | 0.73 | 0.820 | 1.000 | 3 | 2012 | 2017 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2014 | |||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.030 | 1.000 | 3 | 1999 | 2016 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2002 | 2007 | ||||
|
8 | 0.807 | 0.160 | X | 101401752 | missense variant | C/G;T | snv | 5.5E-04 | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.710 | 1.000 | 2 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 11 | 78074911 | intron variant | T/C | snv | 0.38 | 0.020 | 1.000 | 2 | 2016 | 2019 | ||||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.080 | 6 | 1337158 | intergenic variant | T/A | snv | 0.14 | 0.720 | 1.000 | 2 | 2016 | 2017 | ||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.020 | < 0.001 | 2 | 2016 | 2019 | |||||
|
2 | 1.000 | 0.160 | 11 | 27674117 | synonymous variant | C/T | snv | 4.1E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.020 | 0.500 | 2 | 2012 | 2013 | |||||
|
1 | 3 | 141080371 | non coding transcript exon variant | G/A | snv | 0.26 | 0.800 | 1.000 | 2 | 2012 | 2014 | ||||||
|
14 | 0.732 | 0.480 | 9 | 121006922 | missense variant | C/T | snv | 0.47 | 0.36 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.020 | 1.000 | 2 | 2011 | 2016 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.020 | 0.500 | 2 | 2000 | 2014 |