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 | 1.000 | 0.040 | 12 | 4408974 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 6 | 96617336 | downstream gene variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 3 | 172505416 | downstream gene variant | -/GAGT | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.870 | 1.000 | 10 | 2011 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 153488877 | upstream gene variant | T/C | snv | 0.62 | 0.020 | < 0.001 | 2 | 2015 | 2018 | ||||
|
1 | 1 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 156503322 | upstream gene variant | C/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | X | 40905504 | upstream gene variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 8 | 130021250 | upstream gene variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 2 | 233916086 | upstream gene variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.882 | 0.160 | 6 | 31570467 | upstream gene variant | C/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.200 | 6 | 31571990 | upstream gene variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.120 | 2 | 237858561 | upstream gene variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | X | 123182584 | upstream gene variant | T/C | snv | 0.38 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 11 | 133959811 | upstream gene variant | A/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 12166729 | upstream gene variant | GCCGGGCAGGTGGAG/-;GCCGGGCAGGTGGAGGCCGGGCAGGTGGAG | delins | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 0.882 | 0.080 | 6 | 31575318 | upstream gene variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 10 | 112426866 | splice region variant | G/A | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 0.830 | 0.800 | 5 | 2013 | 2018 | ||||
|
1 | 10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||
|
3 | 0.925 | 0.160 | 7 | 73703866 | 3 prime UTR variant | T/C | snv | 0.42 | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2012 | |||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |