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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 0.700 | 1.000 | 5 | 2008 | 2016 | |||||
|
5 | 0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2006 | 2016 | |||||
|
3 | 0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2011 | 2016 | |||||
|
7 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||
|
1 | 1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2006 | 2013 | ||||
|
1 | 17 | 39724750 | inframe insertion | -/GCTCCCCAG | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 1.000 | 0.040 | 17 | 39711952 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.763 | 0.200 | 17 | 39711955 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 0.882 | 0.080 | 17 | 39724772 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.807 | 0.200 | 17 | 39723966 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
9 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.080 | 17 | 39724744 | protein altering variant | -/TCT;TGT;TTT | ins | 0.700 | 1.000 | 1 | 2014 | 2014 |