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 | 0.925 | 0.120 | 5 | 112835093 | stop gained | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1997 | 1997 | ||||
|
5 | 0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv | 0.700 | 1.000 | 4 | 1996 | 2009 | |||||
|
1 | 16 | 23614039 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | 2 | 47795984 | frameshift variant | TAAA/- | delins | 0.700 | 0 | ||||||||||
|
1 | 11 | 108249045 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||||
|
1 | 17 | 61801267 | stop gained | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.120 | 9 | 95172033 | splice region variant | T/A | snv | 2.9E-04 | 2.1E-04 | 0.700 | 1.000 | 10 | 1993 | 2016 | |||
|
4 | 0.882 | 0.240 | 9 | 95101742 | stop gained | G/A | snv | 5.2E-05 | 7.7E-05 | 0.700 | 1.000 | 5 | 1993 | 2017 | |||
|
2 | 1.000 | 0.120 | 3 | 10149819 | missense variant | G/T | snv | 0.700 | 1.000 | 8 | 1996 | 2010 | |||||
|
4 | 0.882 | 0.200 | 3 | 10142038 | missense variant | G/A;C | snv | 0.700 | 1.000 | 7 | 1998 | 2014 | |||||
|
3 | 0.925 | 0.160 | 3 | 10146561 | missense variant | G/C;T | snv | 0.700 | 1.000 | 5 | 1996 | 2014 | |||||
|
4 | 0.925 | 0.040 | 3 | 10146549 | missense variant | G/A;C;T | snv | 2.0E-05 | 0.700 | 1.000 | 3 | 2011 | 2014 | ||||
|
12 | 0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.120 | 9 | 21971200 | missense variant | C/G;T | snv | 9.0E-06 | 0.700 | 1.000 | 16 | 1995 | 2010 | ||||
|
8 | 0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 | 0.700 | 1.000 | 19 | 1995 | 2015 | ||||
|
5 | 0.851 | 0.200 | 9 | 21970982 | missense variant | A/T | snv | 0.700 | 1.000 | 9 | 1994 | 2013 | |||||
|
5 | 0.851 | 0.200 | 9 | 21971183 | missense variant | A/C;T | snv | 4.6E-06 | 0.700 | 1.000 | 8 | 1998 | 2011 | ||||
|
3 | 0.925 | 0.120 | 9 | 21971192 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1998 | 2011 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805078 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 11 | 64804588 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 1997 | 2012 | |||||
|
2 | 1.000 | 0.120 | 11 | 64809695 | missense variant | G/C | snv | 0.700 | 1.000 | 6 | 1997 | 2013 | |||||
|
2 | 1.000 | 0.120 | 11 | 64805132 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2004 | 2016 | |||||
|
2 | 1.000 | 0.120 | 11 | 64807557 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 1997 | 1997 | |||||
|
2 | 1.000 | 0.120 | 11 | 64804789 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.200 | 11 | 112089002 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2000 | 2012 |