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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2003 | 2003 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.950 | 20 | 2005 | 2017 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.080 | 0.750 | 8 | 2005 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.080 | 0.750 | 8 | 2005 | 2016 | ||||
|
7 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
9 | 0.807 | 0.120 | 5 | 1403013 | missense variant | G/A | snv | 5.3E-04 | 5.8E-04 | 0.050 | 1.000 | 5 | 2005 | 2018 | |||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
2 | 0.925 | 0.200 | X | 54467901 | missense variant | C/T | snv | 7.9E-06 | 9.5E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 5 | 36687754 | 3 prime UTR variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.040 | 11 | 637406 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.080 | 1.000 | 8 | 2006 | 2013 | ||||
|
2 | 1.000 | 0.040 | 9 | 133644512 | intron variant | T/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2006 | 2010 | ||||
|
3 | 1.000 | 0.040 | 11 | 61857233 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.040 | 1.000 | 4 | 2007 | 2018 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
3 | 0.882 | 0.080 | 5 | 1431049 | intron variant | G/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.040 | 11 | 639273 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 16 | 55661194 | intron variant | C/T | snv | 8.6E-02 | 0.030 | 1.000 | 3 | 2008 | 2018 | ||||
|
4 | 0.851 | 0.080 | 12 | 5494466 | synonymous variant | G/A;T | snv | 0.49; 3.2E-05 | 0.030 | 0.667 | 3 | 2008 | 2014 | ||||
|
1 | 1.000 | 0.040 | 16 | 55692146 | intron variant | C/T | snv | 5.3E-03 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | X | 7256158 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
2 | 0.925 | 0.040 | 13 | 108163877 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 |