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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 5 | 1293837 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 5 | 1294810 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 20 | 63661935 | frameshift variant | TC/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 5 | 1280216 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 20 | 63695387 | stop gained | C/G;T | snv | 1.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.790 | 0.080 | 8 | 22163096 | missense variant | T/A;C | snv | 3.6E-05 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 0.500 | 2 | 2017 | 2017 | |||
|
10 | 0.752 | 0.280 | 6 | 31815730 | 5 prime UTR variant | G/A;C;T | snv | 0.39; 2.0E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 6 | 31816809 | synonymous variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
15 | 0.763 | 0.280 | 11 | 102530930 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 11 | 102530902 | upstream gene variant | G/A | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 8 | 22164010 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.080 | 17 | 7679695 | intron variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 3 | 169746671 | intergenic variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.851 | 0.240 | 4 | 73740952 | intron variant | T/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.752 | 0.400 | 6 | 31810495 | missense variant | G/A;C;T | snv | 0.87 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.240 | 3 | 157437072 | intron variant | A/G | snv | 0.55 | 0.50 | 0.010 | 1.000 | 1 | 2012 | 2012 |