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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 1 | 215674335 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2019 | ||||
|
3 | 0.882 | 0.200 | 1 | 216048648 | splice acceptor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 1 | 215799066 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 1 | 216321921 | missense variant | A/G | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.790 | 0.200 | 1 | 216247185 | stop gained | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.807 | 0.200 | 1 | 215728232 | stop gained | C/T | snv | 9.2E-05 | 1.2E-04 | 0.700 | 1.000 | 2 | 2004 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 215675463 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 1 | 216196630 | stop gained | C/A;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 216325522 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 215674515 | missense variant | G/A | snv | 2.2E-04 | 2.5E-04 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.200 | 1 | 215790168 | missense variant | C/T | snv | 3.5E-04 | 5.5E-04 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 216046523 | missense variant | G/C | snv | 2.3E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 215674564 | protein altering variant | AGAGTCCATGTTC/CAAG | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 215743218 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 215799080 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 215888425 | splice donor variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 1 | 215900848 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 1 | 215675336 | missense variant | C/T | snv | 5.9E-04 | 4.5E-04 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 1 | 215970645 | missense variant | C/A;G;T | snv | 1.2E-04; 4.0E-06; 9.2E-05 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.200 | 1 | 216246592 | missense variant | A/C | snv | 2.1E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 1 | 216292352 | missense variant | G/C | snv | 1.3E-03 | 7.8E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.200 | 1 | 215786715 | missense variant | C/T | snv | 3.6E-05 | 7.7E-05 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.200 | 1 | 216365084 | missense variant | A/C;T | snv | 4.0E-06; 3.2E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
5 | 0.851 | 0.200 | 1 | 215877882 | splice acceptor variant | T/C | snv | 3.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.200 | 1 | 215845898 | stop gained | C/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2009 | 2009 |