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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.900 | 0.917 | 24 | 2009 | 2018 | ||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.900 | 0.913 | 23 | 2009 | 2019 | ||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.880 | 0.909 | 11 | 2011 | 2017 | |||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.860 | 1.000 | 8 | 2011 | 2017 | ||||
|
3 | 0.925 | 0.120 | 22 | 21619030 | intron variant | C/A;T | snv | 0.18 | 0.820 | 1.000 | 2 | 2013 | 2018 | ||||
|
3 | 0.925 | 0.120 | 16 | 9768699 | intron variant | G/T | snv | 0.38 | 0.810 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.827 | 0.160 | 6 | 31264334 | downstream gene variant | A/G | snv | 0.81 | 0.810 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.280 | 6 | 31162816 | 3 prime UTR variant | G/A | snv | 0.50 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.730 | 0.750 | 4 | 2011 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.730 | 1.000 | 4 | 2011 | 2019 | |||
|
2 | 0.925 | 0.200 | 6 | 33092219 | non coding transcript exon variant | T/G | snv | 0.33 | 0.720 | 1.000 | 4 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.200 | 6 | 33058469 | regulatory region variant | A/G;T | snv | 0.28 | 0.710 | 1.000 | 4 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33080909 | missense variant | G/A;T | snv | 0.31; 1.4E-02 | 0.710 | 1.000 | 3 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 33077781 | intron variant | G/A | snv | 0.32 | 0.710 | 0.667 | 3 | 2009 | 2016 | ||||
|
4 | 0.851 | 0.280 | 6 | 33087470 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 3 | 2012 | 2016 | |||||
|
1 | 1.000 | 0.080 | 6 | 33111389 | upstream gene variant | C/T | snv | 4.8E-02 | 0.710 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 22 | 21566528 | intron variant | G/C | snv | 0.18 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.710 | 1.000 | 2 | 2011 | 2019 | |||
|
2 | 0.925 | 0.160 | 6 | 33081144 | non coding transcript exon variant | A/G | snv | 0.27 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.200 | 6 | 32739518 | upstream gene variant | G/T | snv | 0.51 | 0.710 | 1.000 | 2 | 2011 | 2014 | ||||
|
5 | 0.827 | 0.320 | 6 | 33082502 | intron variant | A/G | snv | 0.40 | 0.710 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 33085905 | missense variant | G/A;C | snv | 0.32; 4.1E-06 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
7 | 0.790 | 0.280 | 6 | 33087030 | 3 prime UTR variant | A/G | snv | 0.38 | 0.710 | 0.500 | 2 | 2013 | 2018 | ||||
|
4 | 0.851 | 0.280 | 6 | 32756140 | 3 prime UTR variant | C/T | snv | 0.49 | 0.710 | 1.000 | 1 | 2014 | 2014 |