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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 11 | 18033757 | intron variant | T/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
3 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 19 | 48668049 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 5 | 80781309 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 219218640 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 2 | 233669782 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 206480926 | intron variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||||
|
1 | 5 | 80764197 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 48700572 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 87549387 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 4 | 69108277 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 19 | 48665685 | intron variant | G/A | snv | 0.32 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 10 | 94842866 | missense variant | A/G | snv | 0.95 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 0.020 | 1.000 | 2 | 2006 | 2011 |