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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 2 | 134671718 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.200 | 6 | 131846837 | intron variant | C/T | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.080 | 2 | 230954091 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 18 | 24100771 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 18 | 67783109 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
15 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 18 | 62773567 | intron variant | T/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 4 | 61952750 | intron variant | T/C | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 15 | 79571143 | intergenic variant | C/T | snv | 1.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.160 | 19 | 10194877 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 6 | 89238513 | intergenic variant | A/C | snv | 0.37 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 250642 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
10 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.900 | 0.961 | 51 | 2007 | 2019 | ||||
|
5 | 0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 | 0.800 | 1.000 | 3 | 2012 | 2016 | ||||
|
3 | 0.925 | 0.120 | 16 | 53782926 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 31484552 | intron variant | G/A | snv | 0.24 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 82663343 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.160 | 16 | 53492639 | non coding transcript exon variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.160 | 16 | 53786591 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 143138309 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 17 | 14085565 | intron variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 47808390 | synonymous variant | C/T | snv | 0.50 | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 |