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 | 0.925 | 0.160 | 15 | 48446909 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.160 | 15 | 48510183 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.160 | 15 | 48494269 | intron variant | G/A;T | snv | 7.7E-04; 2.0E-05 | 3.2E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 15 | 48503845 | stop gained | G/A;C;T | snv | 7.6E-04 | 0.800 | 1.000 | 37 | 1993 | 2017 | ||||
|
2 | 0.925 | 0.160 | 15 | 48421652 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.800 | 1.000 | 17 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.160 | 15 | 48472594 | stop gained | G/A;C;T | snv | 3.6E-05 | 1.4E-05 | 0.800 | 1.000 | 10 | 1996 | 2017 | |||
|
1 | 1.000 | 0.160 | 15 | 48415735 | stop gained | C/A;T | snv | 2.1E-04 | 0.800 | 1.000 | 10 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.160 | 15 | 48468070 | stop gained | G/A | snv | 0.700 | 1.000 | 9 | 2001 | 2015 | |||||
|
5 | 0.882 | 0.160 | 15 | 48432947 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 2001 | 2018 | |||||
|
4 | 0.925 | 0.160 | 15 | 48468064 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 1999 | 2013 | |||||
|
2 | 0.925 | 0.160 | 15 | 48456691 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 2005 | 2016 | |||||
|
9 | 0.763 | 0.200 | 15 | 48495219 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 1991 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48510048 | stop gained | A/C;T | snv | 0.700 | 1.000 | 6 | 1973 | 2007 | |||||
|
2 | 0.925 | 0.160 | 15 | 48412715 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2004 | 2016 | ||||
|
2 | 0.925 | 0.160 | 15 | 48487402 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 2005 | 2012 | |||||
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | |||||
|
2 | 0.925 | 0.160 | 15 | 48465580 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2001 | 2014 | ||||
|
2 | 0.925 | 0.160 | 15 | 48468427 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 5 | 2000 | 2015 | ||||
|
2 | 0.925 | 0.160 | 15 | 48537704 | stop gained | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2001 | 2016 | ||||
|
2 | 0.925 | 0.160 | 15 | 48596328 | stop gained | G/A;C | snv | 0.700 | 1.000 | 4 | 2005 | 2015 | |||||
|
2 | 0.925 | 0.160 | 15 | 48427591 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 1999 | 2016 | |||||
|
3 | 0.882 | 0.160 | 15 | 48520716 | stop gained | G/A | snv | 0.700 | 1.000 | 4 | 2003 | 2015 | |||||
|
10 | 0.790 | 0.160 | 15 | 48513591 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2005 | 2016 | |||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 1.000 | 3 | 1994 | 2002 | ||||
|
2 | 0.925 | 0.160 | 15 | 48513552 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2016 |