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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 5 | 25967594 | intron variant | T/A;C | snv | 0.030 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 1.000 | 0.040 | 8 | 141605122 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.683 | 0.480 | 12 | 53961717 | upstream gene variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.040 | 2 | 63062599 | downstream gene variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 9 | 23358877 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 9591303 | intergenic variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.040 | 6 | 98143746 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 155456016 | intron variant | -/GC | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
6 | 0.827 | 0.080 | 8 | 31616625 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 7 | 155454910 | intron variant | CGCATCCCC/-;CGCATCCCCCGCATCCCC | delins | 0.28 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 20 | 44632053 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.280 | 20 | 44651586 | missense variant | C/A;G;T | snv | 7.1E-06; 6.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.040 | 4 | 61873823 | intron variant | G/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 22 | 24440056 | intron variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 8 | 26864720 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 2 | 96115984 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 15 | 29114003 | missense variant | A/C;G | snv | 4.0E-06; 3.6E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 112844212 | 3 prime UTR variant | C/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.882 | 0.160 | 5 | 112841474 | synonymous variant | G/A | snv | 0.65 | 0.60 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.040 | Y | 1614890 | upstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2008 | 2013 | |||||
|
1 | 1.000 | 0.040 | Y | 1614999 | upstream gene variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2008 | 2013 | |||||
|
8 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 3 | 193454190 | missense variant | T/A | snv | 8.6E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 3 | 10360419 | intron variant | G/A | snv | 0.34 | 0.010 | 1.000 | 1 | 2011 | 2011 |