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 | 0.925 | 0.080 | 17 | 35005158 | 3 prime UTR variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 5 | 122071524 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 | 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 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.160 | 9 | 132902703 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
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 | |||
|
2 | 1.000 | 0.040 | 9 | 13557492 | intron variant | A/C;T | snv | 0.030 | 1.000 | 3 | 2013 | 2018 | |||||
|
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 | |||
|
5 | 0.827 | 0.160 | 20 | 25077762 | missense variant | T/C;G | snv | 2.7E-03 | 0.030 | 0.667 | 3 | 2008 | 2013 | ||||
|
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 | |||
|
3 | 1.000 | 0.040 | 9 | 134548682 | upstream gene variant | G/A | snv | 0.36 | 0.030 | 1.000 | 3 | 2013 | 2015 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.020 | 1.000 | 2 | 2017 | 2020 | |||
|
26 | 0.672 | 0.480 | 14 | 20454990 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |