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 | 0.120 | 18 | 62349000 | intron variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.160 | 18 | 62342581 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.827 | 0.280 | 5 | 151070675 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.320 | 6 | 31902549 | intron variant | G/A | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 1 | 67354511 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 80451970 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 6 | 31178143 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 23007948 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 31387541 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 30856755 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
9 | 0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.882 | 0.160 | 6 | 31231431 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.807 | 0.360 | 6 | 31090563 | intergenic variant | C/A | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.280 | 6 | 32425100 | intergenic variant | C/T | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.200 | 6 | 137909252 | intergenic variant | G/A | snv | 3.3E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.360 | 6 | 32787513 | intergenic variant | T/C | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 6 | 32606283 | intergenic variant | A/C | snv | 0.85 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.160 | 6 | 31005088 | regulatory region variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 9 | 97062415 | regulatory region variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 1.000 | 5 | 2008 | 2015 | |||
|
12 | 0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
3 | 0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 |