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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
27 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.776 | 0.200 | 11 | 1996209 | non coding transcript exon variant | C/G;T | snv | 0.46; 5.2E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 18 | 51047229 | synonymous variant | A/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.732 | 0.360 | 5 | 56736057 | regulatory region variant | C/A | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 15 | 90528542 | upstream gene variant | T/C | snv | 0.88 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.160 | 16 | 73017721 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
19 | 0.763 | 0.440 | 11 | 116789970 | 3 prime UTR variant | G/A | snv | 0.93 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 230211910 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 5 | 150732056 | intron variant | T/C | snv | 8.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.120 | 2 | 31024648 | intron variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.200 | 5 | 111073450 | 5 prime UTR variant | C/G | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
55 | 0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.160 | 1 | 45338378 | 5 prime UTR variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 |