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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.100 | 1.000 | 18 | 2004 | 2018 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.100 | 1.000 | 10 | 2006 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 1.000 | 7 | 2001 | 2016 | |||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2010 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.040 | 1.000 | 4 | 2007 | 2018 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.040 | 1.000 | 4 | 2007 | 2018 | |||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
6 | 0.827 | 0.080 | 17 | 42301316 | missense variant | C/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2004 | 2018 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2002 | 2006 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2013 | 2015 | |||
|
4 | 0.882 | 0.200 | 7 | 140778011 | missense variant | T/A;G | snv | 0.700 | 1.000 | 3 | 2006 | 2009 | |||||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.030 | 1.000 | 3 | 2008 | 2013 | ||||
|
8 | 0.807 | 0.160 | 4 | 99594840 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | < 0.001 | 2 | 2012 | 2016 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
19 | 0.708 | 0.320 | 15 | 90088702 | missense variant | C/A;T | snv | 3.2E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
14 | 0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv | 0.020 | 1.000 | 2 | 2007 | 2008 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2001 | 2006 | |||||
|
5 | 0.851 | 0.120 | 21 | 34859485 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2014 | 2014 |