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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 12 | 87334666 | intergenic variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 16 | 80071969 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 2 | 231433365 | downstream gene variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 58120049 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1.000 | 0.040 | 3 | 181080939 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 7 | 24289527 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 5 | 81110747 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.080 | 12 | 72010598 | intron variant | C/A;T | snv | 0.81 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.040 | 4 | 46085716 | intron variant | A/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 3 | 180949777 | intron variant | C/G;T | snv | 0.24 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.882 | 0.160 | 5 | 143399792 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
23 | 0.695 | 0.440 | 5 | 143399010 | intron variant | G/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2010 | 2016 | ||||
|
3 | 1.000 | 0.040 | 21 | 42202157 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.030 | 0.667 | 3 | 2012 | 2018 | |||
|
3 | 1.000 | 0.040 | 3 | 181063312 | intron variant | C/T | snv | 0.15 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 5 | 96956300 | intron variant | T/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 3 | 172448243 | synonymous variant | G/A;C;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.882 | 0.160 | 5 | 143399780 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
19 | 0.732 | 0.320 | 4 | 148436323 | missense variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2014 | 2014 |