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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.720 | 1.000 | 3 | 2010 | 2016 | |||
|
5 | 0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 | 0.720 | 1.000 | 2 | 2014 | 2017 | ||||
|
4 | 0.851 | 0.120 | 8 | 81741409 | intron variant | A/G | snv | 6.6E-02 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
7 | 0.790 | 0.160 | 10 | 21626690 | intron variant | T/A | snv | 0.23 | 0.710 | 1.000 | 2 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.120 | 4 | 119028805 | intron variant | A/C;T | snv | 0.710 | 1.000 | 2 | 2015 | 2017 | |||||
|
6 | 0.807 | 0.160 | 17 | 37736525 | intron variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2013 | 2015 | |||||
|
2 | 0.925 | 0.120 | 12 | 63871057 | intron variant | G/A | snv | 0.15 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 10 | 36880367 | regulatory region variant | G/T | snv | 0.90 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 9 | 98998959 | intron variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 5 | 168286995 | upstream gene variant | C/T | snv | 2.1E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 4 | 69576447 | intron variant | A/G | snv | 0.76 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 10 | 5049762 | intron variant | C/T | snv | 0.30 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 7963141 | intron variant | G/C;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 28518321 | intron variant | A/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 37616450 | intron variant | G/A | snv | 0.24 | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 3 | 166329716 | intergenic variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 20620263 | downstream gene variant | A/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 87773925 | intron variant | G/A | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 1 | 22141722 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 18 | 27347470 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 |