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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.280 | 6 | 30112216 | intron variant | A/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-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 | ||||
|
12 | 0.752 | 0.400 | 16 | 27344882 | missense variant | A/C;G;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2012 | 2018 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 1.000 | 5 | 2008 | 2015 | |||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
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 | ||||
|
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 | 5 | 143277647 | downstream gene variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
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 | |||
|
3 | 0.882 | 0.240 | 6 | 30861745 | upstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 13 | 108290686 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.360 | 6 | 32368989 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 32412431 | downstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.280 | 6 | 30576624 | intron variant | A/G | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.280 | 5 | 151076171 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.776 | 0.440 | 6 | 31973120 | non coding transcript exon variant | A/G | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
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 | ||||
|
13 | 0.732 | 0.400 | 6 | 31481199 | non coding transcript exon variant | C/A | snv | 0.11 | 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 | ||||
|
4 | 0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 |