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 | 199950846 | intergenic variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 1 | 86022231 | intron variant | C/A | snv | 0.27 | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1 | 219455340 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 3 | 23161963 | regulatory region variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 6 | 6735964 | intron variant | A/T | snv | 0.66 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 18 | 60205756 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.925 | 0.120 | 18 | 60184530 | intergenic variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 4 | 45173787 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
16 | 0.790 | 0.320 | 11 | 2818521 | intron variant | C/T | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 1.000 | 0.080 | 16 | 3963466 | 3 prime UTR variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 3 | 52825614 | intron variant | C/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 15 | 40032280 | intron variant | T/C | snv | 0.15 | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 18 | 60174356 | intergenic variant | T/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 20 | 60081096 | downstream gene variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 0.080 | 16 | 53777876 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 5 | 88669203 | non coding transcript exon variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 1.000 | 0.080 | 2 | 622531 | intergenic variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 6 | 50866444 | intergenic variant | G/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 |