| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 0.979 | 477 | 2002 | 2020 | ||||||||
|
0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv |
|
0.800 | 0.981 | 464 | 2002 | 2020 | |||||||||
|
0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv |
|
0.800 | 1.000 | 54 | 2002 | 2020 | |||||||||
|
0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 2013 | 2014 | ||||||||
|
0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv |
|
0.720 | 1.000 | 14 | 1989 | 2017 | |||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.720 | 1.000 | 9 | 2002 | 2016 | ||||||||
|
0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv |
|
0.720 | 1.000 | 6 | 1986 | 2019 | |||||||||
|
0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv |
|
0.710 | 1.000 | 15 | 2002 | 2014 | |||||||||
|
0.925 | 0.040 | 7 | 140753345 | missense variant | AG/GA | mnv |
|
0.710 | 1.000 | 13 | 2002 | 2018 | |||||||||
|
0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.710 | 1.000 | 2 | 2009 | 2014 | ||||||||
|
0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv |
|
0.710 | 1.000 | 2 | 2014 | 2018 | |||||||||
|
0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.700 | 1.000 | 12 | 2002 | 2014 | ||||||||
|
0.925 | 0.160 | 7 | 140753355 | missense variant | CA/TC | mnv |
|
0.700 | 1.000 | 3 | 2002 | 2010 | |||||||||
|
0.925 | 0.200 | 7 | 140753353 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 3 | 2002 | 2014 | |||||||||
|
0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv |
|
0.700 | 1.000 | 2 | 2005 | 2014 | |||||||||
|
0.925 | 0.200 | 7 | 140781618 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753361 | missense variant | T/C | snv |
|
0.700 | 1.000 | 2 | 2014 | 2015 | |||||||||
|
1.000 | 0.040 | 7 | 140781678 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2014 | ||||||||
|
0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2002 | 2003 | |||||||||
|
1.000 | 0.040 | 7 | 140753351 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 140753332 | inframe deletion | TTT/- | del |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.851 | 0.280 | 7 | 140753350 | missense variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 |