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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.280 | 18 | 31592902 | missense variant | G/A | snv | 5.1E-02 | 5.2E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
6 | 0.827 | 0.160 | 18 | 31598602 | missense variant | G/A | snv | 7.9E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.200 | 18 | 31598647 | missense variant | C/T | snv | 1.5E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.925 | 0.080 | 16 | 4015582 | non coding transcript exon variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.020 | 0.500 | 2 | 2008 | 2019 | ||||
|
18 | 0.732 | 0.360 | 1 | 55063514 | missense variant | G/A | snv | 0.95 | 0.90 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.030 | 0.667 | 3 | 1999 | 2018 | |||
|
3 | 0.925 | 0.040 | 15 | 67181297 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 5 | 77035624 | missense variant | G/A | snv | 1.0E-02 | 9.9E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
24 | 0.683 | 0.320 | 17 | 80385145 | missense variant | G/A;C | snv | 2.6E-04; 8.0E-06 | 0.020 | 1.000 | 2 | 2018 | 2020 | ||||
|
1 | 6 | 85334045 | intergenic variant | A/T | snv | 1.8E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||||
|
1 | 20 | 903001 | intron variant | T/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2002 | 2002 |