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 | 1.000 | 0.080 | 7 | 80602188 | 5 prime UTR variant | G/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 16 | 29679875 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 137219938 | upstream gene variant | C/T | snv | 0.67 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 6 | 137215318 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 9 | 117712993 | stop gained | C/T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 2 | 118975372 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 4 | 38828278 | missense variant | G/A | snv | 1.2E-04 | 2.3E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 6 | 32839023 | upstream gene variant | GCTTTGTAATTGGAGAAT/- | delins | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 14 | 67651415 | missense variant | C/G;T | snv | 9.2E-02 | 8.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 58799804 | intergenic variant | T/C | snv | 0.75 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 230182908 | intron variant | G/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 118967884 | intron variant | A/G | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 2 | 118973892 | intron variant | T/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 16 | 29672859 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 10 | 79558907 | missense variant | C/G | snv | 0.19 | 0.16 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
66 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.200 | 17 | 19649164 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |