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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.160 | 9 | 77794572 | missense variant | T/A;C;G | snv | 0.750 | 1.000 | 6 | 2014 | 2019 | |||||
|
6 | 0.851 | 0.080 | 9 | 77794572 | missense variant | TG/AA | mnv | 0.740 | 0.800 | 5 | 2014 | 2018 | |||||
|
7 | 0.827 | 0.160 | 19 | 3118944 | missense variant | A/C;T | snv | 0.730 | 1.000 | 6 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 9 | 3526656 | upstream gene variant | A/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 9 | 122601929 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 15 | 27799396 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 140964558 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.080 | 7 | 82276774 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 4 | 67581531 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.080 | 14 | 89955214 | 5 prime UTR variant | G/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.160 | 5 | 1330138 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 4 | 156195774 | intergenic variant | A/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 3 | 52405266 | splice acceptor variant | CATGAACCAGCCGCCTCCTCTGCACCATCTGAGACAG/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 20 | 9409106 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.030 | 1.000 | 3 | 2013 | 2017 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
96 | 0.529 | 0.600 | 2 | 208248388 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 3 | 129431556 | stop gained | A/G;T | snv | 4.0E-06; 3.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 52405897 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 11 | 18934156 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 |