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 | ||||
|
1 | 1.000 | 0.120 | 2 | 43580926 | intron variant | C/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 6 | 39048860 | missense variant | C/T | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.120 | 2 | 43511034 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.200 | 19 | 2249478 | missense variant | G/T | snv | 0.77 | 0.74 | 0.030 | 0.333 | 3 | 2008 | 2019 | |||
|
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 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | 0.333 | 3 | 2009 | 2014 | |||
|
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 | |||
|
1 | 1.000 | 0.120 | 8 | 136144207 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 5 | 83575938 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.030 | 0.667 | 3 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.120 | 9 | 5440589 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 9 | 124101917 | TF binding site variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 |