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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 5 | 35856473 | 5 prime UTR variant | T/C | snv | 0.26 | 0.020 | < 0.001 | 2 | 2014 | 2017 | ||||
|
8 | 0.790 | 0.360 | 10 | 6072697 | upstream gene variant | C/A | snv | 6.1E-02 | 0.020 | < 0.001 | 2 | 2009 | 2009 | ||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
8 | 0.827 | 0.200 | 17 | 45996523 | synonymous variant | A/G | snv | 0.14 | 0.15 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 105575658 | 3 prime UTR variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.280 | 12 | 57764147 | missense variant | C/T | snv | 1.0E-04 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
5 | 0.827 | 0.120 | 15 | 77680428 | intron variant | C/T | snv | 0.42 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
12 | 0.742 | 0.440 | 2 | 203870794 | synonymous variant | C/T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 8 | 63477322 | non coding transcript exon variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 17 | 37161868 | synonymous variant | T/C | snv | 8.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 2 | 220589153 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 6 | 32293376 | missense variant | C/T | snv | 1.5E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 17 | 55977164 | intron variant | A/C | snv | 4.1E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
19 | 0.716 | 0.480 | 8 | 118951813 | missense variant | G/C | snv | 0.52 | 0.60 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.080 | 1 | 88754789 | intron variant | G/A | snv | 8.6E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 105545332 | missense variant | G/A;T | snv | 4.0E-06; 3.5E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.280 | 2 | 162268127 | missense variant | T/C | snv | 1.1E-02 | 1.2E-02 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
15 | 0.742 | 0.200 | 1 | 11022553 | missense variant | G/A;C | snv | 3.0E-05 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.080 | 18 | 7584296 | intron variant | G/A | snv | 0.39 | 0.010 | < 0.001 | 1 | 2012 | 2012 |