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 | 0.040 | 1 | 4544044 | intergenic variant | T/A | snv | 0.50 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 189546287 | intergenic variant | A/G | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 65846910 | intron variant | A/C | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 177602999 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 76215537 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 20840000 | intron variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 105694496 | upstream gene variant | G/T | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 1 | 147816164 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 5722661 | intergenic variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 232421037 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 225374683 | splice region variant | C/T | snv | 0.81 | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 1 | 170460651 | non coding transcript exon variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 190884663 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 216551790 | intron variant | T/C | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 209467518 | intergenic variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 106136142 | intergenic variant | A/G | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 1 | 61973715 | intron variant | T/C | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 147032530 | intron variant | T/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 157431916 | regulatory region variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 112465599 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 158369116 | intergenic variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 54762456 | intron variant | T/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 228084986 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |