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 | 2 | 213064562 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 59042487 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 19 | 35345923 | intron variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 19 | 35333116 | intron variant | C/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 2 | 219833404 | intergenic variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 137811379 | intergenic variant | T/G | snv | 2.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 12 | 5043783 | upstream gene variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 1 | 173287411 | intergenic variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 167125409 | intron variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 12 | 23793212 | intron variant | C/T | snv | 7.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 112708266 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 85938316 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 56124624 | 3 prime UTR variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.160 | 10 | 103913084 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 11 | 118768644 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.160 | 3 | 160595133 | intergenic variant | G/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 |