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 | 0.080 | 1 | 207841577 | intron variant | T/C | snv | 0.19 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 186671995 | 3 prime UTR variant | A/T | snv | 4.6E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
31 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 186671994 | 3 prime UTR variant | T/A | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 1 | 207756858 | intron variant | G/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 78628133 | missense variant | A/G | snv | 0.38 | 0.36 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 1 | 186671572 | downstream gene variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 1 | 186671485 | downstream gene variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.200 | 1 | 186681714 | upstream gene variant | T/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
33 | 0.637 | 0.640 | 1 | 186681619 | upstream gene variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.240 | 1 | 186671926 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 0.030 | 1.000 | 3 | 2010 | 2014 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2018 | 2018 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 2 | 165308751 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.080 | 2 | 166056450 | stop gained | A/G;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.080 | 2 | 166041277 | missense variant | T/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 27256512 | missense variant | G/A;C | snv | 5.8E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 2 | 165292743 | intron variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 165378122 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 165344371 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 |