| 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 | 0.120 | 5 | 158271107 | upstream gene variant | C/A | snv | 0.49 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 5306434 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 7 | 82151406 | intron variant | T/A | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 18 | 43695432 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 125733372 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.160 | 14 | 96262416 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 109742339 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 224260357 | intron variant | C/A | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 115906039 | intergenic variant | A/T | snv | 2.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 7085094 | intron variant | A/G | snv | 8.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.851 | 0.240 | 6 | 53545239 | intron variant | G/A;T | snv | 6.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 1 | 4529823 | intergenic variant | C/T | snv | 6.1E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 3 | 168172398 | intergenic variant | T/-;TT | delins | 5.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 9 | 104713014 | intergenic variant | GA/- | delins | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 15 | 45022070 | upstream gene variant | G/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 9368285 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 109702928 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 157516897 | non coding transcript exon variant | C/T | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.776 | 0.400 | 19 | 1106616 | stop gained | T/A;C | snv | 4.2E-06; 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 247647989 | intron variant | G/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 9 | 84349773 | intron variant | T/C | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |