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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 11 | 17383292 | non coding transcript exon variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 0.080 | 12 | 111835695 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 2 | 49957256 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 1 | 11779866 | missense variant | C/T | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 1.000 | 0.120 | 12 | 111270654 | non coding transcript exon variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 1.000 | 0.040 | 4 | 155724361 | intron variant | C/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 3 | 133765868 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 1.000 | 0.080 | 19 | 44738916 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.160 | 3 | 41922636 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 3 | 133756968 | missense variant | G/A | snv | 5.2E-02 | 4.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 1.000 | 0.040 | 18 | 49655298 | downstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 1 | 63643100 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.080 | 2 | 26709163 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 3 | 133766610 | intron variant | A/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.160 | 3 | 41829905 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 1.000 | 0.040 | 8 | 125469835 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.080 | 2 | 226251649 | intergenic variant | A/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 1.000 | 0.040 | 4 | 102225731 | intergenic variant | A/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 16 | 9120023 | 3 prime UTR variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 3 | 133717292 | intron variant | C/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.160 | 3 | 41890838 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 |