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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 9 | 115381654 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 40031285 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.360 | 8 | 6877877 | 5 prime UTR variant | C/T | snv | 0.43 | 0.40 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 3 | 30672350 | synonymous variant | C/T | snv | 5.5E-02 | 3.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.040 | 6 | 32551228 | upstream gene variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 4 | 123863618 | non coding transcript exon variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 89792100 | downstream gene variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 9 | 114776054 | upstream gene variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.790 | 0.240 | 9 | 114804733 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.200 | 6 | 159682052 | 3 prime UTR variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 62748144 | intron variant | C/T | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 15 | 89329018 | synonymous variant | C/T | snv | 4.2E-03 | 2.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 12 | 40249666 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
22 | 0.672 | 0.520 | 11 | 126292948 | missense variant | C/T | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 0.925 | 0.040 | 1 | 27373180 | frameshift variant | G/- | delins | 1.6E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.030 | 1.000 | 3 | 2015 | 2017 | |||
|
1 | 1.000 | 0.040 | 16 | 50820507 | intergenic variant | G/A | snv | 6.2E-02 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.040 | 6 | 146597814 | intron variant | G/A | snv | 7.7E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 67131436 | intron variant | G/A | snv | 0.83 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
5 | 0.882 | 0.160 | 8 | 89766285 | intron variant | G/A | snv | 0.60 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.882 | 0.080 | 10 | 17849701 | missense variant | G/A | snv | 0.32 | 0.020 | 1.000 | 2 | 2010 | 2012 | ||||
|
1 | 1.000 | 0.040 | 8 | 117614040 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 3 | 183857982 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 |