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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2013 | 2016 | |||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.030 | 1.000 | 3 | 2013 | 2018 | |||
|
39 | 0.627 | 0.640 | 1 | 65570758 | missense variant | A/G | snv | 0.30 | 0.25 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
3 | 0.882 | 0.040 | 1 | 219275036 | downstream gene variant | C/T | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
8 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 156137730 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 209687741 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.716 | 0.440 | 1 | 65610269 | missense variant | G/C;T | snv | 0.16; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.200 | 1 | 65636574 | synonymous variant | G/A | snv | 0.46 | 0.43 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.925 | 0.080 | 1 | 209687323 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.240 | 1 | 209697571 | intron variant | A/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.827 | 0.160 | 1 | 65624099 | intron variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.790 | 1.000 | 10 | 2011 | 2019 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.760 | 1.000 | 7 | 2014 | 2019 | |||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.030 | 1.000 | 3 | 2016 | 2018 | |||
|
10 | 0.776 | 0.200 | 2 | 112013193 | intron variant | A/G | snv | 0.58 | 0.030 | 1.000 | 3 | 2016 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 212072166 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 2 | 11774815 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 118089309 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 27621734 | 3 prime UTR variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 2 | 31485750 | intergenic variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 31440248 | regulatory region variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 150398953 | intergenic variant | G/A | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |