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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 31284147 | intron variant | C/T | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
14 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.820 | 1.000 | 4 | 2010 | 2015 | |||
|
1 | 1.000 | 0.080 | 6 | 32954682 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 31273332 | intron variant | C/G;T | snv | 0.13 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
1 | 1.000 | 0.080 | 10 | 66001962 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 101896982 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 32820935 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 29732406 | intron variant | C/A;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 0.882 | 0.160 | 2 | 60937196 | non coding transcript exon variant | G/A | snv | 0.25 | 0.810 | 1.000 | 3 | 2012 | 2015 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.040 | 1.000 | 4 | 2008 | 2019 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 60854407 | intron variant | C/T | snv | 0.35 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 67145930 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.400 | 12 | 6341779 | synonymous variant | T/C | snv | 0.37 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 6 | 137637128 | regulatory region variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
29 | 0.645 | 0.440 | 8 | 23201811 | missense variant | C/G | snv | 0.54 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.080 | 14 | 35383268 | downstream gene variant | C/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 |