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 | 0.882 | 0.320 | 1 | 241513659 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.320 | 1 | 241513661 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 10 | 31679855 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 9 | 680714 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 32348834 | intergenic variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 2 | 11562535 | missense variant | A/C | snv | 0.54 | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 9 | 804886 | intergenic variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.120 | 11 | 30204981 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.040 | 11 | 32343884 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 12 | 70756878 | intron variant | T/C | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 210899 | non coding transcript exon variant | C/T | snv | 4.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 213723 | non coding transcript exon variant | T/G | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 6 | 34209733 | intergenic variant | T/A | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 8 | 4584258 | intron variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 1 | 22135618 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 11 | 32305471 | intron variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | X | 132180234 | intergenic variant | T/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40307071 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.827 | 0.160 | 3 | 169759718 | downstream gene variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 4 | 69735020 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 17 | 7796745 | intron variant | C/T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 108278480 | intron variant | T/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 4 | 48034600 | intron variant | T/C | snv | 3.3E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 17 | 7559785 | intron variant | G/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |