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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.200 | 21 | 43774760 | splice acceptor variant | C/G | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 6 | 1996 | 2012 | |||
|
4 | 0.882 | 0.080 | 21 | 43774280 | frameshift variant | GA/- | delins | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 5 | 1997 | 2008 | |||
|
2 | 0.925 | 0.080 | 6 | 145627691 | stop gained | G/A;C | snv | 7.7E-05 | 0.700 | 1.000 | 3 | 1998 | 2014 | ||||
|
4 | 0.882 | 0.080 | 21 | 43774690 | stop gained | G/A | snv | 3.2E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 1996 | 2016 | |||
|
3 | 0.925 | 0.040 | 17 | 46932200 | splice donor variant | G/A | snv | 1.0E-04 | 2.6E-04 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 17 | 46935027 | splice acceptor variant | A/G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 4 | 76181016 | stop gained | G/A | snv | 8.0E-06 | 2.8E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 6 | 145635468 | stop gained | C/A;T | snv | 1.2E-05; 2.8E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 21 | 43776206 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.790 | 0.160 | 11 | 17772053 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2017 | 2019 | |||||
|
3 | 0.882 | 0.120 | 3 | 167825265 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 1.000 | 0.040 | 12 | 46364420 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 7 | 66639189 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
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 | |||
|
6 | 0.807 | 0.120 | 1 | 155238215 | missense variant | T/C | snv | 7.2E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 7 | 66639180 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.120 | 1 | 155237399 | missense variant | T/C | snv | 1.8E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 |