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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.740 | 1.000 | 13 | 2006 | 2013 | ||||
|
8 | 0.851 | 0.160 | 1 | 152312601 | frameshift variant | ACTG/- | delins | 1.3E-02 | 0.700 | 1.000 | 7 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 152312743 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 152309169 | stop gained | G/A;T | snv | 8.0E-06; 1.6E-03 | 0.700 | 1.000 | 2 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 1 | 152307697 | stop gained | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 152310981 | stop gained | G/A;T | snv | 2.4E-05; 1.2E-04 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 1 | 152304999 | stop gained | G/T | snv | 3.2E-05 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 1 | 152313983 | frameshift variant | TCCTG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 152315363 | stop gained | C/A | snv | 1.2E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.120 | 1 | 152312410 | stop gained | G/A;C | snv | 6.0E-04 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 1 | 152314399 | stop gained | C/A;T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.120 | 1 | 152307225 | stop gained | G/C;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
7 | 0.790 | 0.200 | 1 | 152307547 | stop gained | G/A;C;T | snv | 2.8E-03; 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 1 | 152304939 | stop gained | G/C;T | snv | 4.7E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 1 | 152305146 | stop gained | G/A;C;T | snv | 3.6E-05; 4.0E-06; 1.5E-03 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 1 | 152311565 | frameshift variant | T/- | del | 2.9E-04 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 1 | 152302822 | stop gained | T/A;C | snv | 1.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 152307637 | stop gained | G/A | snv | 1.4E-04 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |