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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 9 | 116620855 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.040 | 16 | 89675088 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.120 | 7 | 114416000 | intron variant | G/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 7 | 106904783 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 64212171 | intron variant | G/T | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.080 | 11 | 79366149 | intron variant | A/G | snv | 0.15 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 72553194 | intron variant | T/A | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 88551455 | intron variant | T/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 6 | 118473527 | intron variant | C/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 3 | 61634560 | intron variant | A/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 5779203 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 4 | 61914104 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 3 | 143302028 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 8 | 34805452 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 17 | 30216371 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 6 | 54034290 | intron variant | A/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 89366967 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 114430980 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.763 | 0.360 | 6 | 32945469 | intron variant | C/T | snv | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 1 | 231761122 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 5 | 170715913 | intron variant | C/G;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 61542902 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 |