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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 9 | 13557492 | intron variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||
|
3 | 1.000 | 0.040 | 9 | 134548682 | upstream gene variant | G/A | snv | 0.36 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 122077195 | non coding transcript exon variant | C/A;G | snv | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
3 | 1.000 | 0.040 | 13 | 40536747 | intron variant | C/T | snv | 8.6E-02 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 122073485 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 3 | 172277815 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
2 | 1.000 | 0.040 | 9 | 134676205 | intron variant | C/T | snv | 0.21 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
2 | 0.925 | 0.040 | 20 | 25079443 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 | 0.030 | 0.667 | 3 | 2002 | 2011 | ||||
|
1 | 1.000 | 0.040 | 13 | 98885709 | missense variant | T/G | snv | 6.9E-05 | 3.5E-05 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 227028004 | missense variant | C/G;T | snv | 0.47 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 1.000 | 0.040 | 15 | 79209826 | non coding transcript exon variant | G/T | snv | 9.9E-03 | 1.1E-02 | 0.020 | < 0.001 | 2 | 2013 | 2016 | |||
|
2 | 0.925 | 0.040 | 5 | 96703321 | intron variant | T/C | snv | 0.45 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 20 | 25081706 | missense variant | G/A;T | snv | 9.7E-06; 7.2E-03 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 122071524 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 139394555 | missense variant | C/T | snv | 2.1E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 5 | 139394411 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 245133143 | downstream gene variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 20 | 25078910 | synonymous variant | T/C | snv | 0.26 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 16 | 88434118 | missense variant | G/C | snv | 5.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 20 | 25079507 | missense variant | G/C | snv | 3.4E-03 | 2.9E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 16 | 88429410 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 16 | 2080180 | missense variant | G/A;C;T | snv | 8.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 114316541 | mature miRNA variant | A/G | snv | 4.0E-06 | 4.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 5 | 149374385 | missense variant | C/T | snv | 4.3E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 20 | 25079487 | missense variant | T/C | snv | 7.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 |