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 | 0.080 | 3 | 122119944 | 3 prime UTR variant | T/C | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
2 | 0.925 | 0.080 | 11 | 116834384 | upstream gene variant | G/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 3 | 136392816 | intron variant | G/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 19 | 51759909 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 9557042 | upstream gene variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 9557277 | upstream gene variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 18 | 35906684 | upstream gene variant | C/T | snv | 9.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 11 | 117993410 | splice region variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.080 | 4 | 73872213 | downstream gene variant | C/A;G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 114693436 | stop gained | G/A;T | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 19970618 | upstream gene variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 3 | 122102296 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 3 | 122052011 | upstream gene variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 9 | 98576823 | intron variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 118970217 | missense variant | C/G;T | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 36509094 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 11 | 104892390 | stop lost | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 6 | 106326589 | upstream gene variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 1 | 223142735 | intron variant | G/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 11 | 126292326 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 11 | 126293169 | 3 prime UTR variant | A/G | snv | 0.12 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.080 | 12 | 66250331 | 3 prime UTR variant | T/C | snv | 9.0E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 9 | 88989662 | upstream gene variant | G/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 1 | 247421289 | intron variant | A/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 14 | 24574706 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 |