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 | 0.040 | 4 | 110180390 | intron variant | -/TTAT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.080 | 4 | 68670366 | missense variant | A/C | snv | 0.51 | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
7 | 0.790 | 0.280 | 2 | 172446825 | intron variant | A/G | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 36308995 | intergenic variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.120 | 10 | 8564051 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 18 | 53662174 | intergenic variant | A/G;T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.672 | 0.360 | 10 | 102837395 | 5 prime UTR variant | A/G;T | snv | 0.40; 8.1E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 27800570 | intergenic variant | A/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 8 | 142682129 | synonymous variant | C/A | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
22 | 0.683 | 0.280 | 12 | 53967210 | intron variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 4 | 68568232 | missense variant | C/A | snv | 5.7E-03 | 5.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.120 | 7 | 99859982 | missense variant | C/A;G | snv | 6.5E-02 | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.080 | 17 | 27800492 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.120 | 12 | 6386109 | synonymous variant | C/A;T | snv | 0.77; 2.0E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 12447612 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 13 | 50904782 | non coding transcript exon variant | C/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 |