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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.724 | 0.440 | 6 | 33087084 | 3 prime UTR variant | A/G | snv | 0.25 | 0.900 | 0.917 | 24 | 2009 | 2018 | ||||
|
16 | 0.701 | 0.440 | 6 | 33065245 | 3 prime UTR variant | A/G | snv | 0.29 | 0.900 | 0.913 | 23 | 2009 | 2019 | ||||
|
13 | 0.732 | 0.240 | 14 | 69778476 | missense variant | G/A | snv | 6.3E-03 | 2.5E-03 | 0.100 | 0.938 | 16 | 2014 | 2019 | |||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.100 | 0.818 | 11 | 2012 | 2015 | ||||
|
31 | 0.645 | 0.360 | 17 | 7674216 | missense variant | C/A;G | snv | 0.100 | 1.000 | 11 | 1995 | 2020 | |||||
|
10 | 0.752 | 0.440 | 6 | 32762235 | intron variant | A/G;T | snv | 0.880 | 0.909 | 11 | 2011 | 2017 | |||||
|
8 | 0.790 | 0.360 | 6 | 32702478 | downstream gene variant | C/T | snv | 0.34 | 0.860 | 1.000 | 8 | 2011 | 2017 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.080 | 0.750 | 8 | 2011 | 2017 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.050 | 1.000 | 5 | 2015 | 2020 | ||||
|
20 | 0.701 | 0.440 | 2 | 241850169 | 3 prime UTR variant | C/T | snv | 0.21 | 0.040 | 1.000 | 4 | 2014 | 2019 | ||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.040 | 0.750 | 4 | 2015 | 2018 | |||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.730 | 0.750 | 4 | 2011 | 2019 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.040 | 1.000 | 4 | 2001 | 2011 | |||
|
2 | 0.925 | 0.200 | 6 | 33058469 | regulatory region variant | A/G;T | snv | 0.28 | 0.710 | 1.000 | 4 | 2009 | 2013 | ||||
|
2 | 0.925 | 0.200 | 6 | 33092219 | non coding transcript exon variant | T/G | snv | 0.33 | 0.720 | 1.000 | 4 | 2009 | 2019 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 0.750 | 4 | 2012 | 2019 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.730 | 1.000 | 4 | 2011 | 2019 | |||
|
1 | 1.000 | 0.080 | 6 | 33080909 | missense variant | G/A;T | snv | 0.31; 1.4E-02 | 0.710 | 1.000 | 3 | 2013 | 2019 | ||||
|
11 | 0.776 | 0.280 | 17 | 42314074 | 3 prime UTR variant | G/A | snv | 0.48 | 0.030 | 0.667 | 3 | 2017 | 2019 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.030 | 0.667 | 3 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 33070989 | intron variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2013 | |||||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2019 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 0.667 | 3 | 2016 | 2019 | |||
|
2 | 0.925 | 0.080 | 6 | 33077781 | intron variant | G/A | snv | 0.32 | 0.710 | 0.667 | 3 | 2009 | 2016 | ||||
|
4 | 0.851 | 0.280 | 6 | 33087470 | 3 prime UTR variant | T/A;C | snv | 0.710 | 1.000 | 3 | 2012 | 2016 |