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 | 0.080 | 14 | 96876033 | stop gained | C/G;T | snv | 6.4E-05; 4.0E-06 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 14 | 101980380 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 5 | 70951939 | splice acceptor variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2008 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 70951920 | splice acceptor variant | CTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT/- | del | 0.700 | 1.000 | 3 | 2000 | 2008 | |||||
|
1 | 1.000 | 0.040 | 5 | 70951940 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.040 | 5 | 70925180 | missense variant | G/A | snv | 8.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 70951956 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 17 | 42691905 | missense variant | C/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 2 | 71656236 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 14 | 101979952 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 5 | 70946157 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 1997 | 2002 | |||||
|
2 | 1.000 | 0.040 | 5 | 70070732 | missense variant | A/G | snv | 0.040 | 1.000 | 4 | 1997 | 2002 | |||||
|
3 | 0.925 | 0.080 | 5 | 70076545 | missense variant | G/C | snv | 3.3E-03 | 2.2E-03 | 0.030 | 1.000 | 3 | 2009 | 2010 | |||
|
2 | 0.925 | 0.080 | 5 | 70944713 | stop gained | T/A | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.080 | 5 | 70942416 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 0.925 | 0.040 | 11 | 65079421 | stop lost | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 13 | 37002522 | missense variant | G/A;C | snv | 8.2E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 14 | 36684834 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 8 | 18075541 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 70951968 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 9 | 134886483 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 9 | 92717947 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.807 | 0.080 | 9 | 37784953 | missense variant | C/G | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 9 | 92722699 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.160 | 22 | 23767438 | missense variant | C/A;T | snv | 1.8E-05; 4.4E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |