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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2007 | 2015 | |||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.807 | 0.320 | 1 | 11790870 | missense variant | C/T | snv | 5.6E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
10 | 0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 1 | 85267691 | missense variant | C/T | snv | 8.0E-06; 6.5E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
21 | 0.708 | 0.360 | 1 | 204549714 | 3 prime UTR variant | C/A;G | snv | 0.77; 6.2E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
29 | 0.653 | 0.440 | 2 | 38070996 | missense variant | T/C;G | snv | 0.15; 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.030 | 1.000 | 3 | 2010 | 2015 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.020 | 0.500 | 2 | 2011 | 2015 | |||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
4 | 0.851 | 0.160 | 2 | 38074751 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
16 | 0.742 | 0.320 | 2 | 233693545 | missense variant | A/G | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
13 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.160 | 2 | 102015190 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.790 | 0.160 | 2 | 102005914 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.200 | 2 | 47800283 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.200 | 2 | 47800914 | stop gained | C/A;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
5 | 0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 |