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 | 4 | 101944147 | intron variant | G/A | snv | 4.1E-02 | 0.800 | 1.000 | 1 | 2012 | 2017 | ||||
|
1 | 0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 | 0.810 | 1.000 | 1 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 102611094 | intron variant | A/G | snv | 5.1E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.800 | 1.000 | 1 | 2010 | 2016 | ||||
|
2 | 1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv | 0.810 | 1.000 | 1 | 2008 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 110426390 | downstream gene variant | C/G;T | snv | 0.810 | 1.000 | 1 | 2014 | 2017 | |||||
|
2 | 0.925 | 0.120 | 19 | 1123379 | intron variant | A/C | snv | 0.25 | 0.710 | 1.000 | 1 | 2008 | 2010 | ||||
|
1 | 0.827 | 0.120 | 19 | 1124032 | intron variant | G/A | snv | 0.24 | 0.26 | 0.800 | 1.000 | 2 | 2008 | 2017 | |||
|
1 | 1.000 | 0.040 | 19 | 1124836 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.653 | 0.320 | 1 | 113761186 | upstream gene variant | C/A | snv | 6.7E-02 | 0.800 | 1.000 | 2 | 2008 | 2015 | ||||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.860 | 0.800 | 2 | 2005 | 2016 | |||
|
1 | 1.000 | 0.040 | 9 | 114759302 | intergenic variant | C/T | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 9 | 114783386 | downstream gene variant | C/T | snv | 0.34 | 0.820 | 1.000 | 2 | 2005 | 2019 | ||||
|
2 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 9 | 114789323 | 3 prime UTR variant | T/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.850 | 1.000 | 2 | 2005 | 2018 | |||
|
3 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.760 | 1.000 | 2 | 2005 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 114801407 | intron variant | T/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.807 | 0.160 | 9 | 114804160 | intron variant | A/G | snv | 0.75 | 0.830 | 0.750 | 1 | 2008 | 2014 | ||||
|
2 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.720 | 1.000 | 1 | 2005 | 2016 | ||||
|
2 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.830 | 1.000 | 3 | 2005 | 2016 | ||||
|
1 | 0.732 | 0.320 | 9 | 114806766 | upstream gene variant | T/C | snv | 0.74 | 0.840 | 1.000 | 1 | 2005 | 2018 | ||||
|
1 | 0.882 | 0.040 | 9 | 114818634 | intergenic variant | C/G;T | snv | 0.830 | 1.000 | 1 | 2005 | 2015 |