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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 16 | 10870261 | intron variant | G/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.882 | 0.080 | 10 | 121488063 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.080 | 10 | 121498520 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.160 | 10 | 121498522 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.925 | 0.080 | 10 | 121498525 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.320 | 5 | 1342599 | intron variant | C/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 3 | 169364845 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.672 | 0.320 | 3 | 179218305 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.240 | 9 | 21974219 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.742 | 0.400 | 9 | 22043927 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.120 | 13 | 23553071 | intergenic variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 13 | 23631056 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2016 | ||||
|
4 | 0.925 | 0.240 | 6 | 29643654 | intergenic variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 6 | 29702484 | regulatory region variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 6 | 29938914 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2010 | 2016 | |||||
|
2 | 1.000 | 0.120 | 6 | 29950322 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.882 | 0.160 | 6 | 31295974 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 2 | 2010 | 2016 |