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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 0.980 | 406 | 2005 | 2020 | |||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.800 | 0.983 | 176 | 2004 | 2020 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 30 | 2002 | 2019 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.790 | 1.000 | 26 | 2002 | 2019 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.960 | 25 | 2004 | 2017 | |||
|
6 | 0.827 | 0.120 | 7 | 55174015 | missense variant | G/A;C | snv | 0.740 | 1.000 | 21 | 1990 | 2019 | |||||
|
9 | 0.807 | 0.120 | 7 | 55174014 | missense variant | G/A;C;T | snv | 0.750 | 1.000 | 21 | 2004 | 2019 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 19 | 2002 | 2019 | |||||
|
15 | 0.776 | 0.080 | 7 | 55181398 | missense variant | T/A | snv | 0.100 | 0.938 | 16 | 2015 | 2020 | |||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 1.000 | 13 | 2011 | 2019 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 12 | 2004 | 2014 | |||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2004 | 2012 | ||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 11 | 2004 | 2012 | ||||
|
18 | 0.724 | 0.160 | 7 | 55191831 | missense variant | T/A;C;G | snv | 0.750 | 1.000 | 11 | 2004 | 2020 | |||||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.740 | 1.000 | 11 | 2004 | 2018 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.100 | 0.909 | 11 | 2011 | 2017 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.100 | 1.000 | 11 | 2012 | 2017 | |||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 9 | 1984 | 2014 | |||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.090 | 0.889 | 9 | 2011 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.090 | 1.000 | 9 | 2010 | 2017 | |||
|
2 | 0.925 | 0.160 | 11 | 533881 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1982 | 2011 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.080 | 1.000 | 8 | 2004 | 2017 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.070 | 1.000 | 7 | 2006 | 2018 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.070 | 1.000 | 7 | 2008 | 2013 | |||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 7 | 1998 | 2010 |