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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.280 | 11 | 108326116 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 17022684 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.807 | 0.160 | 1 | 17053947 | splice donor variant | C/A;T | snv | 1.2E-05; 4.1E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 1 | 161340638 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.280 | 11 | 112088939 | missense variant | C/T | snv | 2.0E-05 | 1.4E-05 | 0.720 | 1.000 | 15 | 2000 | 2017 | |||
|
9 | 0.807 | 0.240 | 11 | 112088971 | missense variant | G/T | snv | 7.0E-06 | 0.730 | 1.000 | 15 | 2000 | 2017 | ||||
|
5 | 0.851 | 0.200 | 11 | 112089002 | missense variant | A/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 2000 | 2017 | ||||
|
6 | 0.827 | 0.240 | 11 | 112094831 | missense variant | A/G | snv | 0.700 | 1.000 | 13 | 2000 | 2017 | |||||
|
3 | 0.882 | 0.200 | 11 | 112094906 | missense variant | T/C;G | snv | 0.710 | 1.000 | 13 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 112094933 | missense variant | G/T | snv | 0.700 | 1.000 | 5 | 2000 | 2004 | |||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.040 | 2 | 25161623 | missense variant | C/G;T | snv | 6.7E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.120 | 2 | 25161643 | missense variant | T/C | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
12 | 0.742 | 0.120 | 11 | 112086941 | missense variant | G/A | snv | 7.5E-03 | 7.0E-03 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.040 | 1 | 161356764 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.080 | 11 | 112088981 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
4 | 0.851 | 0.080 | 11 | 112093192 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.851 | 0.200 | 11 | 112094815 | stop gained | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.851 | 0.200 | 11 | 112086940 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.807 | 0.120 | 1 | 17044824 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.040 | 11 | 112087944 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.827 | 0.200 | 1 | 17023975 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.120 | 5 | 251439 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |