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 | 10 | 3554755 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 17 | 3000998 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | 16 | 67082698 | intron variant | C/G | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.120 | 4 | 79376097 | intergenic variant | T/C | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.120 | 2 | 217056046 | intergenic variant | G/T | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 7 | 70935714 | regulatory region variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1.000 | 6 | 167818409 | intron variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 22 | 27918624 | intron variant | G/A | snv | 4.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 6 | 2634705 | non coding transcript exon variant | C/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 10 | 7272478 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 21 | 45497121 | intron variant | C/T | snv | 0.14 | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 4 | 185141891 | upstream gene variant | C/T | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.120 | 16 | 68834619 | 3 prime UTR variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 8 | 23608232 | intergenic variant | G/A | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 14 | 70423423 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.882 | 0.080 | 8 | 116197325 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 2 | 218841159 | upstream gene variant | C/T | snv | 1.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.790 | 0.160 | 6 | 32129371 | missense variant | G/A | snv | 2.7E-04 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.776 | 0.280 | 10 | 121577821 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 3 | 46825376 | downstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.763 | 0.120 | 5 | 44706396 | intergenic variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 10 | 62492218 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2016 | 2016 |