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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.080 | 17 | 17582270 | 5 prime UTR variant | G/A | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 14 | 20472910 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
28 | 0.677 | 0.560 | 10 | 104263031 | missense variant | C/A | snv | 0.25 | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 21 | 46152973 | missense variant | C/T | snv | 5.7E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.280 | 17 | 50360095 | missense variant | C/G;T | snv | 0.33; 3.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 16 | 68739957 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 16 | 68740009 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
38 | 0.627 | 0.480 | 3 | 9756778 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.200 | 7 | 92241059 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.080 | 17 | 17522317 | missense variant | C/A;G;T | snv | 8.0E-06; 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 |