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 | 2 | 58728818 | intron variant | A/G | snv | 0.47 | 0.710 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 9 | 114228791 | intron variant | G/A | snv | 0.63 | 0.810 | 1.000 | 2 | 2013 | 2015 | ||||
|
3 | 0.882 | 0.120 | 6 | 38398065 | intron variant | T/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.120 | 12 | 16599165 | non coding transcript exon variant | A/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 13 | 76978136 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 1 | 34876494 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 11 | 10976402 | regulatory region variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 112569669 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 34881321 | intron variant | T/C | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 51815127 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 160688380 | intergenic variant | C/T | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 8995481 | intergenic variant | C/G | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 6 | 98102413 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 10 | 23416522 | intergenic variant | T/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 2 | 58636438 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 36676981 | missense variant | G/C | snv | 2.5E-02 | 1.9E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 18 | 27952340 | missense variant | T/C | snv | 2.5E-02 | 2.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 2 | 107986975 | intron variant | A/G | snv | 0.82 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 13 | 28038749 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 15 | 50252520 | stop gained | C/T | snv | 0.710 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 14 | 89963514 | missense variant | G/A;C | snv | 3.9E-02; 6.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 17 | 30211356 | missense variant | T/C;G | snv | 7.4E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 10 | 49663420 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 4 | 177549744 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 11 | 119655426 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 1 | 2015 | 2015 |