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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1 | 236518948 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
4 | 2 | 231108702 | missense variant | T/C | snv | 6.3E-03 | 2.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 4 | 47216323 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 5 | 175443899 | 5 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.827 | 0.160 | 5 | 175443147 | 5 prime UTR variant | C/T | snv | 0.68 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.851 | 0.160 | 5 | 175443193 | 5 prime UTR variant | C/T | snv | 0.15 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.020 | 1.000 | 2 | 2007 | 2015 | |||
|
6 | 0.851 | 0.200 | 6 | 77461407 | downstream gene variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
20 | 0.724 | 0.160 | 6 | 88150763 | intron variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
14 | 0.752 | 0.280 | 6 | 88140381 | 3 prime UTR variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 6 | 88151548 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
18 | 0.807 | 0.160 | 6 | 78958469 | splice donor variant | ACTT/- | delins | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 |