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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 18 | 37634043 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.160 | 2 | 136248628 | intergenic variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
20 | 0.689 | 0.520 | 4 | 122588266 | regulatory region variant | G/T | snv | 0.10 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.360 | 9 | 120942809 | regulatory region variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.280 | 9 | 120944104 | regulatory region variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.200 | 18 | 69863790 | 3 prime UTR variant | C/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.020 | 0.500 | 2 | 2010 | 2017 | |||
|
2 | 1.000 | 0.160 | 6 | 36677689 | non coding transcript exon variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.776 | 0.320 | 1 | 159714396 | intron variant | T/A;C | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.320 | 1 | 159714026 | stop gained | G/C | snv | 8.8E-05 | 1.3E-04 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
11 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
25 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |