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 | ||||
|
2 | 1.000 | 0.040 | X | 116170939 | intron variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 1 | 201368042 | intron variant | A/G | snv | 0.84 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 201367856 | intron variant | C/A;G;T | snv | 1.8E-04; 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 18 | 36681085 | intron variant | C/T | snv | 0.49 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | X | 15596749 | intron variant | G/C | snv | 5.0E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 0.700 | 1.000 | 16 | 1997 | 2017 | ||||
|
4 | 0.882 | 0.080 | 12 | 110919133 | stop gained | C/A;G;T | snv | 4.0E-06; 8.0E-06; 2.0E-05 | 0.710 | 1.000 | 11 | 1996 | 2016 | ||||
|
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 | |||
|
9 | 0.807 | 0.040 | 6 | 118559037 | stop gained | T/G | snv | 1.6E-05 | 0.710 | 0.833 | 6 | 2003 | 2013 | ||||
|
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 | 14 | 23424804 | stop gained | G/A;C | snv | 0.700 | 1.000 | 5 | 1995 | 2017 | |||||
|
5 | 0.827 | 0.080 | 1 | 201359217 | stop gained | C/A;T | snv | 4.1E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 2003 | 2013 | |||
|
4 | 0.851 | 0.080 | 1 | 201359216 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.040 | 15 | 84839087 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 2012 | 2016 | |||||
|
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 | |||
|
2 | 0.925 | 0.160 | X | 120442650 | stop gained | G/A;T | snv | 9.8E-05 | 0.700 | 1.000 | 3 | 2010 | 2012 |