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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.742 | 0.320 | 18 | 52906232 | missense variant | C/A;G | snv | 0.45 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 12 | 10450529 | missense variant | A/G;T | snv | 4.0E-06; 2.0E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 15 | 74723072 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 12 | 10313425 | missense variant | A/G;T | snv | 8.2E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.905 | 21 | 2004 | 2018 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.100 | 0.545 | 11 | 2004 | 2015 | ||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.100 | 0.909 | 11 | 2004 | 2019 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.070 | 1.000 | 7 | 2004 | 2015 | |||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.060 | 0.833 | 6 | 2004 | 2013 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.040 | 0.750 | 4 | 2004 | 2012 | |||
|
5 | 0.827 | 0.160 | 2 | 215325297 | missense variant | C/G | snv | 0.33 | 0.25 | 0.030 | 1.000 | 3 | 2004 | 2016 | |||
|
1 | 1.000 | 0.120 | 8 | 63038689 | missense variant | T/C | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2018 | ||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.020 | 1.000 | 2 | 2004 | 2016 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.851 | 0.160 | 21 | 45531871 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.120 | 22 | 50744085 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 2 | 203837937 | intergenic variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 1.000 | 0.877 | 81 | 2005 | 2019 | |||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2005 | 2018 | |||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.040 | 0.750 | 4 | 2005 | 2013 | ||||
|
17 | 0.724 | 0.640 | 6 | 32396039 | missense variant | T/C | snv | 0.42 | 0.40 | 0.710 | 1.000 | 4 | 2005 | 2011 | |||
|
7 | 0.790 | 0.280 | 5 | 132301616 | intron variant | C/T | snv | 6.9E-02 | 0.040 | 0.500 | 4 | 2005 | 2015 |