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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.080 | 14 | 101041390 | non coding transcript exon variant | C/T | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 14 | 101066756 | non coding transcript exon variant | C/G;T | snv | 4.0E-06; 4.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.160 | 2 | 102343821 | 3 prime UTR variant | C/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.732 | 0.440 | 12 | 102399855 | 3 prime UTR variant | A/G | snv | 2.1E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 14 | 102539710 | non coding transcript exon variant | G/C | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 0.750 | 4 | 2015 | 2018 | |||
|
19 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.040 | 7 | 106868379 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.040 | 7 | 107169848 | 5 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.807 | 0.160 | 10 | 111079821 | 3 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
33 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.120 | 6 | 12288986 | upstream gene variant | T/G | snv | 0.24 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
14 | 0.752 | 0.080 | 6 | 12292539 | intron variant | G/C;T | snv | 0.45 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
37 | 0.630 | 0.520 | 6 | 12296022 | missense variant | G/T | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.120 | 2 | 127262970 | intron variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.040 | 2 | 127283339 | intron variant | T/C | snv | 0.37 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
19 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
36 | 0.637 | 0.320 | 3 | 138655502 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 |