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 | 0.160 | 6 | 31636736 | missense variant | C/A;T | snv | 3.4E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.160 | 4 | 124718662 | intergenic variant | T/A | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 22 | 36312293 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 4 | 177438525 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.160 | 20 | 9840271 | intron variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 12 | 124851404 | intron variant | C/A | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 10 | 12455748 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 2 | 40337507 | intron variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 4 | 54145602 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 1 | 17357031 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 16 | 24887651 | intron variant | C/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 2 | 160030364 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 9 | 29632144 | upstream gene variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | 1 | 161690906 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 4 | 65276878 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.160 | 6 | 19823007 | intron variant | T/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 8 | 121263666 | regulatory region variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 14 | 50767442 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.160 | 11 | 129451923 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.200 | 1 | 17340013 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 11 | 619789 | missense variant | T/G | snv | 0.63 | 0.59 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
3 | 0.882 | 0.160 | 10 | 35212510 | 3 prime UTR variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 2 | 64100410 | synonymous variant | G/A;C;T | snv | 8.0E-06; 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.160 | 2 | 40257934 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.160 | 2 | 70673271 | synonymous variant | G/A | snv | 0.12 | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 |