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 | 11 | 44618466 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 3 | 148710569 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.807 | 0.160 | 8 | 125478730 | intron variant | A/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 125495066 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.200 | 11 | 61827449 | intron variant | T/- | del | 0.28 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
9 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 6 | 23993395 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 22 | 17168884 | upstream gene variant | T/C | snv | 0.70 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.080 | 3 | 168680960 | intron variant | AA/-;A;AAA | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 31440248 | regulatory region variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 68626662 | downstream gene variant | C/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 68526282 | upstream gene variant | A/C;G;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 150398953 | intergenic variant | G/A | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 88201127 | intergenic variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 73621899 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 3 | 46358410 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 4 | 39417789 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.200 | 6 | 32658092 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.020 | 1.000 | 2 | 2018 | 2019 |