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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.030 | 1.000 | 3 | 2012 | 2016 | |||
|
5 | 0.827 | 0.120 | 11 | 105030337 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.040 | 12 | 106419124 | intron variant | T/C | snv | 0.22 | 0.710 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.716 | 0.160 | 7 | 106867593 | missense variant | T/G | snv | 8.4E-06 | 0.020 | 0.500 | 2 | 2007 | 2017 | ||||
|
2 | 0.925 | 0.040 | 13 | 107823165 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.240 | 11 | 108345859 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.040 | 11 | 108364388 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.827 | 0.040 | 4 | 110632961 | missense variant | A/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
9 | 0.776 | 0.240 | 1 | 11124516 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.807 | 0.160 | 1 | 11124517 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.120 | 1 | 11157173 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.240 | 1 | 11157174 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.752 | 0.160 | 10 | 112709306 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 11 | 114160077 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
26 | 0.667 | 0.400 | 1 | 114713907 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2008 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2020 | |||||
|
5 | 0.827 | 0.080 | 11 | 118657714 | 3 prime UTR variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 3 | 2015 | 2018 |