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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1998 | 2017 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173631 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1997 | 2017 | |||||
|
4 | 0.851 | 0.120 | 14 | 73206384 | splice acceptor variant | A/T | snv | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.120 | 8 | 11765703 | upstream gene variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 81228529 | 3 prime UTR variant | G/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 8 | 125070323 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 3 | 197409951 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 206134615 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 2 | 52372929 | intron variant | T/C | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 81239762 | non coding transcript exon variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 81204174 | intron variant | G/A;T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 81218630 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.200 | 8 | 33431749 | intron variant | G/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 8 | 21763735 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 20 | 10922123 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 20 | 17683901 | upstream gene variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 3 | 171170409 | intron variant | C/T | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 7484595 | intron variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 18 | 79168989 | intron variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 7 | 12243703 | downstream gene variant | G/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 81199662 | non coding transcript exon variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 81218646 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 17 | 81222014 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 8 | 52168991 | intron variant | C/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 |