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 | 0.925 | 0.080 | 7 | 116778953 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 7 | 116783421 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 116783402 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.020 | 0.500 | 2 | 2014 | 2015 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.776 | 0.120 | 11 | 125637491 | missense variant | T/C | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.080 | 14 | 20412501 | intron variant | C/A | snv | 0.89 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
8 | 0.807 | 0.160 | 2 | 233682328 | missense variant | CG/AA | mnv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
14 | 0.732 | 0.200 | 11 | 102718452 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/- | del | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
8 | 0.807 | 0.160 | 2 | 233682328 | frameshift variant | CG/A | delins | 0.010 | 1.000 | 1 | 2001 | 2001 |