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 | 0.120 | 1 | 85267930 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 85267692 | inframe deletion | TCT/- | delins | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2014 | |||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
5 | 0.827 | 0.160 | 19 | 16325934 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 17 | 7673308 | stop lost | T/G | snv | 2.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.120 | 1 | 161626395 | synonymous variant | C/T | snv | 2.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.120 | 18 | 63115978 | intergenic variant | G/A | snv | 5.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 6 | 32377763 | intron variant | T/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32601910 | intergenic variant | A/G | snv | 0.10 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32544836 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32450114 | intergenic variant | C/A;G | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32455244 | downstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32451687 | intergenic variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32456603 | downstream gene variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 32457895 | downstream gene variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.160 | 6 | 32697643 | intergenic variant | T/G | snv | 0.13 | 0.770 | 1.000 | 7 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 32699220 | intergenic variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.020 | 1.000 | 2 | 2012 | 2014 | |||
|
8 | 0.776 | 0.280 | 11 | 123490689 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
17 | 0.701 | 0.400 | 21 | 33415005 | missense variant | A/G | snv | 0.20 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 |