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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 18 | 63318646 | synonymous variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 18 | 63126422 | 3 prime UTR variant | T/C;G | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
24 | 0.677 | 0.400 | 7 | 140753354 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.280 | 7 | 140753349 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.790 | 0.400 | 7 | 140753348 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 0.700 | 0 | |||||||
|
9 | 0.776 | 0.240 | 8 | 127705823 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.120 | 4 | 184635342 | frameshift variant | TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/- | delins | 5.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
8 | 0.776 | 0.240 | 9 | 21971111 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.763 | 0.240 | 9 | 21971112 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.776 | 0.240 | 9 | 21971110 | stop gained | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.200 | 2 | 218583025 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.200 | 2 | 218583026 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.240 | 16 | 3738616 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.742 | 0.360 | 16 | 3738617 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |