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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.120 | 10 | 43114492 | missense variant | A/C;G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 8 | 132869781 | missense variant | G/A | snv | 7.6E-04 | 7.0E-04 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 | 0.700 | 0 | |||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 0.500 | 2 | 2009 | 2015 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.060 | 0.667 | 6 | 2012 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2014 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 0.667 | 3 | 2014 | 2015 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2014 | 2015 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.040 | 0.750 | 4 | 2012 | 2019 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.040 | 0.750 | 4 | 2012 | 2019 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.040 | 0.750 | 4 | 2013 | 2017 | |||||
|
11 | 0.776 | 0.120 | 14 | 36269155 | regulatory region variant | C/T | snv | 2.3E-02 | 0.840 | 0.800 | 5 | 2012 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.979 | 96 | 2004 | 2019 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.980 | 98 | 2004 | 2019 | ||||
|
15 | 0.742 | 0.200 | 9 | 97793827 | intron variant | A/G;T | snv | 0.860 | 1.000 | 10 | 2009 | 2016 | |||||
|
10 | 0.776 | 0.160 | 9 | 97853632 | 5 prime UTR variant | A/G | snv | 0.63 | 0.750 | 1.000 | 6 | 2009 | 2015 | ||||
|
16 | 0.742 | 0.200 | 14 | 36180040 | upstream gene variant | C/T | snv | 0.45 | 0.850 | 1.000 | 6 | 2009 | 2015 | ||||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.050 | 1.000 | 5 | 2012 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2014 | 2018 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.040 | 1.000 | 4 | 2016 | 2019 | ||||
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.040 | 1.000 | 4 | 2016 | 2017 | |||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.710 | 1.000 | 4 | 2001 | 2018 |