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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 30 | 2002 | 2019 | ||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.720 | 1.000 | 3 | 2002 | 2019 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.710 | 1.000 | 2 | 2002 | 2015 | |||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 7 | 2002 | 2010 | |||||
|
4 | 0.882 | 0.080 | 7 | 140753338 | inframe insertion | -/TAG | delins | 4.0E-06 | 0.700 | 1.000 | 6 | 2009 | 2012 | ||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2012 | ||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2010 | |||||
|
9 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2002 | 2014 | ||||
|
3 | 0.925 | 0.160 | 7 | 140781612 | missense variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2003 | 2004 | |||||
|
11 | 0.776 | 0.280 | 7 | 140753337 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2004 | 2005 | |||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 7 | 140753334 | inframe deletion | TCA/- | del | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
10 | 0.763 | 0.360 | 7 | 140753393 | missense variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 7 | 140781601 | inframe deletion | TCC/- | del | 0.700 | 0 | ||||||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 1.000 | 29 | 2011 | 2019 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.020 | 1.000 | 2 | 2018 | 2019 |