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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.710 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.776 | 0.280 | 13 | 20189443 | stop gained | C/A;T | snv | 1.3E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.200 | 13 | 20189359 | missense variant | G/A;C | snv | 0.720 | 1.000 | 2 | 2000 | 2001 | |||||
|
3 | 0.925 | 0.120 | 13 | 20189450 | stop gained | C/G;T | snv | 2.8E-05 | 0.710 | 1.000 | 1 | 2001 | 2001 | ||||
|
13 | 0.742 | 0.280 | 13 | 20189548 | missense variant | C/A;G | snv | 5.1E-04 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.120 | 13 | 20189332 | missense variant | C/A;G;T | snv | 1.6E-05; 3.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.120 | 13 | 20189523 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 13 | 20189487 | missense variant | C/A;T | snv | 3.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 13 | 20189202 | missense variant | C/A;T | snv | 2.8E-04; 1.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.925 | 0.120 | 13 | 20189256 | frameshift variant | CTTGATGAACTTCC/- | delins | 1.5E-04 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.280 | 13 | 20189581 | start lost | T/A;C | snv | 3.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.763 | 0.280 | 13 | 20188965 | missense variant | T/C | snv | 9.6E-05 | 1.8E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 13 | 20189217 | missense variant | T/A;G | snv | 6.0E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 13 | 20189413 | stop gained | G/A | snv | 2.8E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.280 | 13 | 20189299 | missense variant | C/T | snv | 4.8E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 13 | 20188982 | stop gained | TCCAGACAC/GAATGTCATGAACACTG | delins | 0.700 | 0 | ||||||||
|
1 | 13 | 20189355 | missense variant | A/G | snv | 2.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.120 | 13 | 20189284 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 13 | 20189542 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
2 | 1.000 | 0.120 | 13 | 20188976 | stop gained | -/AAATTCCAGACACTGCAATCATGAACACTGTGAAGACAGTCTTCTC | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 13 | 20189547 | missense variant | C/A;T | snv | 9.2E-05; 7.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.200 | 13 | 20189241 | missense variant | T/C | snv | 1.5E-02 | 5.1E-03 | 0.030 | 1.000 | 3 | 2009 | 2015 | |||
|
6 | 0.882 | 0.240 | 13 | 20189503 | missense variant | C/T | snv | 5.4E-02 | 2.2E-02 | 0.020 | 0.500 | 2 | 2005 | 2009 | |||
|
9 | 0.776 | 0.200 | 13 | 20189358 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2014 | ||||
|
9 | 0.790 | 0.280 | 13 | 20189434 | missense variant | C/A;T | snv | 0.700 | 0 |