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 | 6 | 151878224 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 70576391 | intron variant | T/C | snv | 4.4E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.200 | 15 | 60774317 | intron variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 8 | 141605122 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 71147478 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 160053263 | intron variant | G/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 114600061 | intron variant | T/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 17 | 47300211 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.120 | 9 | 6977633 | intron variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 7 | 114602621 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 0.040 | 3 | 62495388 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 173765644 | intron variant | C/A | snv | 0.80 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
78 | 0.542 | 0.760 | 12 | 47846052 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 55413206 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.827 | 0.080 | 18 | 42611606 | intron variant | T/C | snv | 1.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.790 | 0.160 | X | 43768752 | intron variant | T/A;C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.080 | 12 | 71954918 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 127704626 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 4 | 46951864 | intron variant | G/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 26773790 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 7 | 114617959 | intron variant | C/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 10123963 | intron variant | A/G | snv | 0.55 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 71946293 | intron variant | G/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 |