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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.040 | 20 | 46011053 | splice region variant | G/T | snv | 0.15 | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 17 | 7676326 | intron variant | TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC/-;TCCAGGTCCCCAGCCC;TCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCCTCCAGGTCCCCAGCCC | delins | 0.82 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
32 | 0.653 | 0.600 | 16 | 88646828 | missense variant | A/G;T | snv | 0.70 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.851 | 0.040 | 14 | 60606157 | upstream gene variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.200 | 14 | 64279461 | intron variant | G/A;T | snv | 0.57 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
35 | 0.641 | 0.600 | 14 | 64233098 | 3 prime UTR variant | C/T | snv | 0.31 | 0.33 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 14 | 102083827 | missense variant | T/C | snv | 4.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 13 | 36078480 | intron variant | T/C | snv | 0.27 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 106956310 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 12 | 82698057 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 11 | 64203143 | missense variant | A/G | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.070 | 1.000 | 7 | 2003 | 2018 | |||||
|
9 | 0.776 | 0.160 | 10 | 13110400 | missense variant | T/A | snv | 4.4E-02 | 6.0E-02 | 0.060 | 1.000 | 6 | 2003 | 2007 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.827 | 0.040 | 10 | 68241124 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 10 | 68252081 | regulatory region variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 10 | 13126017 | missense variant | T/C | snv | 4.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 10 | 68231992 | 5 prime UTR variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.040 | 10 | 20349956 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 13122411 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.020 | 1.000 | 2 | 2008 | 2019 |