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 | 1 | 161589537 | intron variant | A/G | snv | 0.74 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
21 | 0.689 | 0.360 | 4 | 38828729 | missense variant | A/G | snv | 0.73 | 0.72 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 14 | 45965382 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
15 | 0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 22 | 24438763 | splice region variant | A/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 4785824 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 11 | 4571047 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 11 | 5496926 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.040 | 1 | 203691653 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
6 | 0.807 | 0.160 | 10 | 119326585 | missense variant | A/T | snv | 3.8E-02 | 9.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 14 | 20892263 | 3 prime UTR variant | A/T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 12496210 | intergenic variant | C/-;CC;CCC | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
23 | 0.672 | 0.560 | 2 | 112779646 | missense variant | C/A | snv | 0.27 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
25 | 0.677 | 0.360 | 4 | 38797027 | missense variant | C/A | snv | 0.53 | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 1.000 | 0.040 | 9 | 133257367 | intron variant | C/A | snv | 0.13 | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 10 | 88990441 | non coding transcript exon variant | C/A | snv | 2.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 9 | 133255635 | synonymous variant | C/A;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.200 | 14 | 20892057 | missense variant | C/G | snv | 0.73 | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 6 | 31593133 | upstream gene variant | C/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 12 | 57111665 | intron variant | C/G | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 121899786 | missense variant | C/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 |