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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2012 | 2017 | |||||
|
4 | 0.851 | 0.040 | 1 | 147552120 | intron variant | C/T | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 1 | 99463578 | upstream gene variant | T/C | snv | 2.3E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
3 | 0.882 | 0.040 | 1 | 147579693 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 1 | 47224766 | intron variant | G/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
48 | 0.637 | 0.440 | 1 | 46405089 | missense variant | C/A | snv | 0.24 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.040 | 1 | 110479338 | intron variant | C/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 89068655 | upstream gene variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.040 | 1 | 234897489 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.851 | 0.040 | 1 | 147581540 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.040 | 1 | 147605490 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 1 | 106295917 | intergenic variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 1 | 11800214 | missense variant | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 1 | 72479983 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.040 | 1 | 147625465 | 3 prime UTR variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.080 | 2 | 207562074 | intron variant | T/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 2 | 184936178 | missense variant | A/T | snv | 0.66 | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.080 | 2 | 207527254 | intron variant | A/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 |