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 | 0.080 | 2 | 100219272 | intron variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 8 | 10033744 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 5 | 100800161 | intergenic variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 5 | 100848943 | intron variant | C/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 101537575 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.240 | 4 | 101794731 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.160 | 4 | 101816093 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.280 | 4 | 101829765 | intron variant | T/C | snv | 0.25 | 0.27 | 0.850 | 1.000 | 7 | 2008 | 2017 | |||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.880 | 1.000 | 9 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 101832251 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 101859567 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.742 | 0.320 | 4 | 101918130 | missense variant | G/A | snv | 0.31 | 0.30 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
1 | 1.000 | 0.080 | 12 | 101928157 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 3 | 10222796 | missense variant | C/G | snv | 0.37 | 0.35 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.120 | 3 | 10234479 | missense variant | T/A | snv | 0.73 | 0.70 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.080 | 2 | 102434684 | non coding transcript exon variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.724 | 0.240 | 2 | 102464132 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.925 | 0.120 | 19 | 10286727 | non coding transcript exon variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 10 | 103243964 | upstream gene variant | T/G | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.120 | 19 | 10338682 | missense variant | T/C | snv | 0.22 | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.730 | 1.000 | 4 | 2015 | 2019 | |||
|
9 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 19 | 10355156 | intron variant | G/A | snv | 9.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 10355447 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 |