| 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 | 0.040 | 3 | 46081389 | intergenic variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 160233011 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 30105482 | non coding transcript exon variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 16 | 3714708 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 16 | 3697203 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 16 | 3688886 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 32057055 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 32837102 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 191152153 | upstream gene variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 50134961 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 7 | 84005397 | synonymous variant | A/G | snv | 0.24 | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 3 | 159847620 | intron variant | G/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159545173 | intron variant | G/T | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159551353 | intron variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159464380 | intron variant | A/T | snv | 9.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159518731 | intron variant | G/A;T | snv | 9.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159462273 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159760965 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 159757722 | intron variant | A/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 7196090 | intron variant | G/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 158719214 | intron variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 31137856 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 32853670 | synonymous variant | C/T | snv | 9.9E-02 | 8.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 19 | 46392960 | 3 prime UTR variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 18366207 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |