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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.790 | 0.200 | 22 | 50625988 | missense variant | T/C | snv | 0.17 | 0.19 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
3 | 0.882 | 0.160 | 21 | 29553607 | stop gained | A/G;T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 21 | 29598863 | synonymous variant | G/A | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.160 | 21 | 36073015 | 3 prime UTR variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 21 | 43072114 | missense variant | C/A;T | snv | 8.1E-06; 8.1E-06 | 0.050 | 1.000 | 5 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.160 | 21 | 43066299 | missense variant | C/T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2005 | 2017 | ||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.040 | 1.000 | 4 | 2005 | 2013 | ||||
|
5 | 0.827 | 0.280 | 21 | 43058192 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.240 | 3 | 53823776 | missense variant | A/C;T | snv | 0.77 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
4 | 0.851 | 0.160 | 3 | 9943972 | synonymous variant | C/T | snv | 0.27 | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 3 | 9943989 | missense variant | T/C;G | snv | 2.6E-02; 6.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 3 | 9934538 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 3 | 9943440 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 3 | 9943773 | intron variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
18 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 13 | 77918396 | missense variant | C/G;T | snv | 4.1E-06; 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.160 | 13 | 77903530 | synonymous variant | G/A | snv | 5.5E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
4 | 0.851 | 0.160 | 4 | 109994859 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |