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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.360 | 3 | 186857603 | 3 prime UTR variant | G/A;C | snv | 0.10 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
6 | 0.807 | 0.200 | 8 | 63026205 | missense variant | G/A | snv | 8.8E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
4 | 0.851 | 0.240 | 12 | 1787714 | 3 prime UTR variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.120 | 9 | 127807038 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.200 | 9 | 127800446 | intron variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
19 | 0.695 | 0.440 | 12 | 68161231 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
10 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
9 | 0.807 | 0.200 | 1 | 202940846 | 3 prime UTR variant | G/C | snv | 0.58 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.120 | 22 | 19750832 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 8 | 14611016 | intron variant | C/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.724 | 0.200 | 2 | 191108308 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 101299780 | non coding transcript exon variant | G/A | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 70121102 | missense variant | A/G | snv | 8.6E-02 | 6.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 19 | 10351837 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 8 | 6538661 | intron variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 11 | 129982285 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 6 | 32486076 | intergenic variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 1 | 245175674 | intron variant | C/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 3 | 160595133 | intergenic variant | G/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 1 | 156087626 | intron variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |