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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 22 | 38132979 | missense variant | A/T | snv | 1.1E-05 | 0.800 | 1.000 | 3 | 2006 | 2013 | ||||
|
2 | 1.000 | 0.040 | 22 | 38129523 | missense variant | C/T | snv | 0.710 | 1.000 | 6 | 2009 | 2017 | |||||
|
6 | 0.882 | 0.120 | 22 | 38112558 | missense variant | C/T | snv | 9.0E-05 | 0.710 | 1.000 | 5 | 2009 | 2016 | ||||
|
4 | 0.882 | 0.080 | 22 | 38112212 | stop gained | A/C | snv | 8.2E-05 | 6.3E-05 | 0.700 | 1.000 | 7 | 2006 | 2016 | |||
|
2 | 1.000 | 0.040 | 22 | 38115658 | stop gained | G/A | snv | 4.8E-05 | 7.0E-06 | 0.700 | 1.000 | 4 | 2006 | 2015 | |||
|
2 | 1.000 | 0.040 | 22 | 38169318 | stop gained | G/A | snv | 3.6E-05 | 1.4E-05 | 0.700 | 1.000 | 3 | 2006 | 2010 | |||
|
1 | 1.000 | 0.040 | 22 | 38115579 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2013 | ||||
|
3 | 1.000 | 0.040 | 22 | 38169424 | start lost | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 22 | 38112541 | missense variant | G/A | snv | 2.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 38120911 | splice acceptor variant | T/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 38116212 | splice acceptor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 38123137 | frameshift variant | -/GC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 38135048 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 38115630 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 22 | 38132946 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.040 | 22 | 38132917 | missense variant | C/A;T | snv | 4.9E-05; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 38112559 | missense variant | G/A | snv | 6.5E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.080 | 22 | 38113617 | inframe deletion | AAC/- | delins | 0.700 | 0 | ||||||||
|
38 | 0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 22 | 38112211 | stop gained | CA/- | del | 3.3E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 22 | 38132922 | missense variant | C/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 22 | 38126370 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 22 | 38129453 | splice donor variant | C/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 22 | 38115615 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 22 | 38132958 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |