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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.120 | 20 | 31411284 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 5 | 112838953 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.120 | 12 | 111335541 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 5 | 40726036 | intron variant | C/A;T | snv | 0.24 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 3 | 94389819 | intergenic variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.080 | 5 | 89607147 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 9 | 133251249 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 155515236 | intron variant | T/C | snv | 2.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 21 | 42363329 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 5 | 112838233 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 16 | 68812189 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.240 | 16 | 23614089 | frameshift variant | T/- | delins | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 109903156 | missense variant | T/C | snv | 6.5E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 19 | 1223035 | missense variant | C/G;T | snv | 9.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 5 | 112839106 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
5 | 0.925 | 0.080 | 16 | 68810224 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.870 | 23 | 2005 | 2018 | |||
|
40 | 0.620 | 0.400 | 10 | 94306584 | missense variant | A/G | snv | 0.28 | 0.31 | 0.100 | 1.000 | 16 | 2010 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.750 | 16 | 2002 | 2018 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.100 | 0.733 | 15 | 2010 | 2017 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.786 | 14 | 2001 | 2017 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.100 | 0.857 | 14 | 2012 | 2018 |