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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.080 | 5 | 111573636 | intron variant | T/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 10454257 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.851 | 0.200 | 17 | 37742390 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 31538488 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.080 | 5 | 1895715 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 13 | 50514220 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.320 | 9 | 117710486 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.080 | 5 | 177094455 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.807 | 0.120 | 7 | 22730530 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 22 | 32554983 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 10 | 121586602 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 6 | 116888889 | intron variant | T/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 110180390 | intron variant | -/TTAT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.120 | 12 | 6382842 | intron variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 6666971 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 5 | 1322353 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.240 | 19 | 17631660 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 10 | 120870067 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.827 | 0.200 | 7 | 99767460 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.200 | 15 | 61174799 | intron variant | C/T | snv | 0.81 | 0.010 | 1.000 | 1 | 2019 | 2019 |