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 | 10 | 79557504 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.040 | 10 | 11300924 | intron variant | C/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 9 | 88989662 | upstream gene variant | G/C | snv | 0.37 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 105163071 | intron variant | C/T | snv | 0.66 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.120 | 17 | 2680294 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 70231632 | intron variant | A/T | snv | 9.7E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 109970856 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 8 | 6530918 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 70245350 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.732 | 0.360 | 15 | 74724835 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 4 | 102506319 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 10 | 11099442 | splice region variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.120 | 5 | 109066439 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 231406910 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.732 | 0.320 | 7 | 106286419 | upstream gene variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 110006407 | intron variant | G/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 1 | 70101505 | intron variant | C/G | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 9 | 88989548 | upstream gene variant | T/G | snv | 0.38 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 10 | 11023453 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 4 | 109990411 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | X | 2914730 | non coding transcript exon variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |