| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2002 | 2015 | ||||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.925 | 0.160 | 2 | 47806838 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.925 | 0.160 | 2 | 47800532 | missense variant | A/G | snv | 8.0E-06 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 12 | 1999 | 2012 | |||||||||
|
0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 |
|
0.700 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1995 | 2015 | |||||||||
|
0.925 | 0.160 | 3 | 37050628 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.882 | 0.160 | 3 | 37014485 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.925 | 0.160 | 3 | 37000977 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 10 | 2004 | 2020 | ||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.708 | 0.160 | 18 | 48927093 | intron variant | T/A;C | snv |
|
0.900 | 0.964 | 10 | 2007 | 2019 |