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 | 0.040 | 10 | 100035604 | regulatory region variant | T/A;G | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.763 | 0.240 | 9 | 104824472 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 104889664 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.160 | 4 | 105275794 | missense variant | A/G;T | snv | 0.30; 6.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 10994782 | intron variant | G/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 111277667 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
10 | 0.776 | 0.200 | 11 | 114262697 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.120 | 11 | 116790772 | missense variant | C/T | snv | 5.0E-02 | 5.5E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 116793135 | upstream gene variant | C/T | snv | 6.4E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
6 | 1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.080 | 11 | 116810292 | downstream gene variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.200 | 11 | 116829426 | upstream gene variant | T/A;C | snv | 0.060 | 1.000 | 6 | 2010 | 2016 | |||||
|
7 | 0.807 | 0.200 | 11 | 116829453 | upstream gene variant | C/T | snv | 0.51 | 0.060 | 1.000 | 6 | 2010 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 116830953 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.120 | 11 | 116830958 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.776 | 0.160 | 11 | 117220893 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 117713001 | synonymous variant | A/G | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.020 | 0.500 | 2 | 2014 | 2016 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
4 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2013 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 0.600 | 5 | 2007 | 2016 |