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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.080 | 6 | 42704609 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 10 | 122461959 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 19 | 11442432 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.080 | 11 | 61962853 | missense variant | C/G;T | snv | 4.4E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 0.925 | 0.040 | 19 | 11441343 | missense variant | C/T | snv | 7.0E-04 | 5.7E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.080 | 11 | 61955906 | missense variant | GC/AA | mnv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
5 | 0.851 | 0.080 | 11 | 61955825 | stop gained | G/C;T | snv | 2.7E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.851 | 0.080 | 11 | 61957397 | missense variant | C/G;T | snv | 8.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.882 | 0.040 | 16 | 10491493 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.790 | 0.320 | 6 | 31946247 | missense variant | T/A | snv | 3.9E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.040 | 1 | 175376466 | intron variant | -/AGAGT | ins | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.080 | 6 | 42721911 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.763 | 0.160 | 6 | 42721821 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.807 | 0.080 | 6 | 42721820 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 8 | 566479 | intergenic variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 14 | 67835182 | stop gained | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
33 | 0.645 | 0.560 | 1 | 196673103 | missense variant | G/A | snv | 0.32 | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.030 | 1.000 | 3 | 2008 | 2016 | ||||
|
14 | 0.724 | 0.280 | 10 | 122461028 | non coding transcript exon variant | G/A | snv | 0.23 | 0.040 | 1.000 | 4 | 2007 | 2012 | ||||
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2016 | 2016 |