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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.900 | 0.889 | 18 | 2009 | 2020 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.090 | 0.889 | 9 | 2012 | 2017 | ||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.040 | 0.500 | 4 | 2012 | 2017 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.080 | 1.000 | 8 | 2009 | 2019 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.020 | 0.500 | 2 | 2012 | 2017 | |||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
62 | 0.576 | 0.720 | 6 | 43784799 | 3 prime UTR variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.050 | 1.000 | 5 | 2011 | 2016 | |||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.060 | 1.000 | 6 | 2010 | 2018 | |||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 3 | 2015 | 2018 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 1.000 | 2 | 2017 | 2017 | |||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
45 | 0.605 | 0.480 | 10 | 129708019 | missense variant | C/T | snv | 0.14 | 0.14 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.720 | 1.000 | 2 | 2011 | 2012 | |||||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 |