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 | 0.080 | 1 | 147339048 | intron variant | T/C | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 1 | 75671921 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 110454809 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 6 | 160212075 | intron variant | T/A;G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 7 | 157757146 | intron variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 14 | 59643053 | intron variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 14 | 59642862 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 3 | 59603270 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 15 | 47852953 | intron variant | C/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.882 | 0.200 | 4 | 9995266 | intron variant | T/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 11 | 102617342 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 16 | 20355185 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 5 | 39378013 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 130951170 | intron variant | AGA/- | delins | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.882 | 0.200 | 15 | 75866642 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 17 | 50748155 | intron variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 160100853 | intron variant | C/T | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 128669172 | intron variant | G/C | snv | 1.4E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 16 | 86727784 | intron variant | C/T | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 112778356 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
24 | 0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.200 | 5 | 98869326 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.080 | 18 | 26813249 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |