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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.200 | 2 | 214745842 | stop gained | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 7 | 2012 | 2016 | |||
|
5 | 0.882 | 0.200 | 2 | 214730491 | stop gained | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 4 | 2016 | 2017 | |||
|
3 | 0.925 | 0.200 | 2 | 214730458 | stop gained | CTGTTCACATACTTTTCTTC/-;CTGTTCACATACTTTTCTTCCTGTTCACATACTTTTCTTC | delins | 0.700 | 1.000 | 2 | 2010 | 2012 | |||||
|
1 | 1.000 | 0.200 | 2 | 47799386 | missense variant | G/A;C | snv | 3.2E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.200 | 2 | 214780669 | stop gained | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.200 | 2 | 214728813 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.200 | 2 | 214797118 | splice acceptor variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 3 | 37040264 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.200 | 4 | 83485026 | frameshift variant | AGCACAAAGCCCGAGAGCACCG/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.320 | 8 | 89982736 | frameshift variant | AA/- | delins | 7.0E-06 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.240 | 8 | 89981520 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 108253839 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.240 | 11 | 108247072 | missense variant | G/A | snv | 8.0E-05 | 6.3E-05 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.200 | 11 | 108284226 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.360 | 11 | 108365208 | stop gained | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.360 | 11 | 108316114 | splice donor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.200 | 11 | 94429909 | splice donor variant | A/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.200 | 11 | 108331957 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.200 | 11 | 108332789 | missense variant | A/G | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
29 | 0.662 | 0.320 | 12 | 25207290 | 3 prime UTR variant | A/C | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 27 | 1997 | 2017 | ||||
|
4 | 0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 23 | 2002 | 2019 | ||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 23 | 1997 | 2014 | |||||
|
5 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 22 | 2000 | 2017 | ||||
|
4 | 0.882 | 0.200 | 13 | 32339700 | frameshift variant | AAA/-;A;AA;AAAA;AAAAA | delins | 2.8E-05 | 0.700 | 1.000 | 20 | 1997 | 2016 |