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 | 0.200 | 6 | 43774842 | non coding transcript exon variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2012 | 2015 | |||||
|
7 | 0.790 | 0.280 | 19 | 51746419 | missense variant | A/C;G | snv | 0.32; 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 8 | 6539242 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 6 | 31933645 | missense variant | G/A;T | snv | 2.0E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
13 | 0.882 | 0.080 | 15 | 58391167 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 19 | 6677978 | synonymous variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 6 | 116065971 | intergenic variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.240 | 1 | 196713817 | synonymous variant | G/A;C;T | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 10 | 122461760 | synonymous variant | G/C;T | snv | 5.9E-02; 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
51 | 0.602 | 0.640 | 4 | 186082920 | missense variant | C/G;T | snv | 1.2E-04; 0.28 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.160 | 7 | 94413927 | missense variant | C/A;G;T | snv | 8.0E-06; 0.77; 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 19 | 51746706 | missense variant | G/A;T | snv | 1.2E-05; 8.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.160 | 19 | 51745746 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 1 | 201211089 | missense variant | A/G | snv | 7.1E-06 | 4.6E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 12 | 95210298 | missense variant | T/C | snv | 2.6E-03 | 8.2E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 10 | 122461711 | missense variant | C/T | snv | 2.1E-02 | 9.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.320 | 6 | 31946247 | missense variant | T/A | snv | 3.9E-02 | 3.4E-02 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.040 | 3 | 99677428 | intron variant | T/C | snv | 9.5E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
10 | 0.882 | 0.080 | 8 | 19986711 | intergenic variant | A/G | snv | 1.0E-01 | 0.020 | < 0.001 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.160 | 7 | 74037810 | non coding transcript exon variant | G/A | snv | 0.11 | 0.020 | 0.500 | 2 | 2011 | 2011 |