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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.060 | 0.500 | 6 | 2006 | 2016 | |||
|
3 | 0.882 | 0.240 | 5 | 161854239 | synonymous variant | T/C | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 2 | 20623988 | synonymous variant | G/A;C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 0.020 | 0.500 | 2 | 2007 | 2018 | |||
|
7 | 0.851 | 0.160 | 6 | 162262672 | missense variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.020 | 1.000 | 2 | 2008 | 2010 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
4 | 0.851 | 0.080 | 15 | 77671545 | intron variant | A/G | snv | 0.28 | 0.900 | 0.714 | 14 | 2009 | 2016 | ||||
|
5 | 0.827 | 0.120 | 15 | 77680428 | intron variant | C/T | snv | 0.42 | 0.030 | 0.667 | 3 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 77673826 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | X | 125567397 | intergenic variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 15 | 77675074 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 9 | 28294233 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 6 | 89217243 | missense variant | T/C | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 89217247 | missense variant | T/C | snv | 0.31 | 0.37 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 89198164 | missense variant | A/G | snv | 5.2E-04 | 2.1E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 89257779 | missense variant | G/A | snv | 0.25 | 0.31 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.080 | 9 | 28717575 | intergenic variant | T/C;G | snv | 0.35 | 0.010 | 1.000 | 1 | 2011 | 2011 |