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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 15 | 68279141 | intron variant | T/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.160 | 6 | 39048860 | missense variant | C/T | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 19 | 4795277 | 3 prime UTR variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 12 | 55972376 | 3 prime UTR variant | G/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 12 | 56777732 | intron variant | T/C | snv | 0.21 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 19 | 17821381 | synonymous variant | T/A;C;G | snv | 0.30 | 0.37 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.120 | 2 | 48732893 | missense variant | G/A | snv | 0.18 | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.160 | 19 | 7182952 | intron variant | A/C | snv | 0.25 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 19 | 49016209 | synonymous variant | A/G | snv | 0.61 | 0.65 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.120 | 5 | 53484261 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.120 | 12 | 56782391 | intron variant | C/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
11 | 0.790 | 0.280 | 10 | 88316086 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 11 | 30218631 | intron variant | C/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 12 | 55995838 | 3 prime UTR variant | G/A | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 10 | 113106413 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.200 | 11 | 108412434 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.200 | 11 | 102123167 | intron variant | G/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |