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 | 6 | 32549268 | downstream gene variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.120 | 19 | 41353431 | 5 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.200 | 6 | 137219288 | missense variant | C/T | snv | 1.3E-03 | 4.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 6 | 31172270 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 5 | 9386473 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 5 | 151059427 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 6 | 29979963 | downstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
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 | 2 | 174764872 | intron variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 5 | 143277647 | downstream gene variant | A/G | snv | 0.18 | 0.010 | 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 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 6 | 31548022 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 |