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 | 0.040 | 17 | 66310015 | intron variant | C/T | snv | 0.59 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 11 | 99622442 | intron variant | C/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 12 | 99694540 | intron variant | T/C | snv | 5.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 33083283 | intron variant | A/C;G | snv | 7.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 14 | 31849939 | intron variant | A/G | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 32447042 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.200 | 18 | 33336845 | intron variant | -/CTTTTTGCT | delins | 7.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 16 | 87925065 | intron variant | C/T | snv | 5.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 6 | 14453908 | intron variant | C/G | snv | 4.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 22 | 46429532 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 22 | 46423108 | intron variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.120 | 2 | 9956965 | intron variant | G/T | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 8 | 95439600 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 8543925 | intron variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 |