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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.080 | 11 | 47332275 | intron variant | AGGGAAGCCATCCAGGCTGAGAGGG/- | delins | 4.0E-03 | 8.9E-04 | 0.700 | 1.000 | 8 | 2003 | 2015 | |||
|
4 | 0.851 | 0.080 | 11 | 47346379 | intron variant | C/T | snv | 2.1E-05 | 0.700 | 1.000 | 5 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.080 | 11 | 47343158 | intron variant | C/T | snv | 1.3E-05; 4.2E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2002 | 2017 | |||
|
2 | 0.925 | 0.080 | 11 | 47346380 | intron variant | G/A;C;T | snv | 3.3E-05 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
7 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 0.700 | 1.000 | 16 | 1997 | 2017 | ||||
|
4 | 0.851 | 0.120 | 11 | 47335120 | stop gained | G/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 1.000 | 10 | 2003 | 2015 | |||
|
5 | 0.827 | 0.120 | 11 | 47333566 | stop gained | G/A | snv | 8.4E-06 | 2.8E-05 | 0.760 | 1.000 | 6 | 2002 | 2019 | |||
|
3 | 0.882 | 0.080 | 11 | 47333238 | stop gained | C/A;T | snv | 4.8E-06; 1.9E-05 | 0.700 | 1.000 | 5 | 1999 | 2017 | ||||
|
4 | 0.851 | 0.120 | 11 | 47332189 | stop gained | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2001 | 2008 | ||||
|
2 | 0.925 | 0.080 | 11 | 47335944 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2004 | 2014 | |||||
|
3 | 0.882 | 0.080 | 11 | 47335042 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2010 | |||||
|
5 | 0.827 | 0.120 | 11 | 47332075 | stop gained | G/A | snv | 8.1E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2013 | |||
|
1 | 1.000 | 0.040 | 11 | 47332245 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2012 | 2014 | |||||
|
3 | 0.882 | 0.080 | 11 | 47346365 | stop gained | G/A;C;T | snv | 4.9E-06 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 47343099 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2002 | 2008 | |||||
|
1 | 1.000 | 0.040 | 11 | 47338646 | stop gained | C/A | snv | 0.700 | 1.000 | 2 | 2014 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 47337539 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 11 | 47349815 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2015 | 2018 | |||||
|
5 | 0.827 | 0.080 | 11 | 47346297 | stop gained | C/A;T | snv | 2.5E-04 | 0.720 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 11 | 47351294 | stop gained | G/A;C;T | snv | 5.3E-05 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 47333966 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.040 | 11 | 47346298 | stop gained | G/A;C | snv | 7.7E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 47337467 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 11 | 47342627 | stop gained | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 11 | 47342088 | stop gained | T/A | snv | 0.700 | 1.000 | 1 | 2003 | 2003 |