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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.160 | 8 | 127519892 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 15 | 32733778 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.200 | 5 | 7897078 | missense variant | C/T | snv | 0.16 | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.120 | 14 | 20456008 | missense variant | G/C | snv | 2.1E-02 | 2.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.851 | 0.120 | 7 | 55181370 | missense variant | G/A;C | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
16 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 17 | 59946963 | 3 prime UTR variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 19 | 7116952 | 3 prime UTR variant | T/C | snv | 0.83 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 4817174 | missense variant | C/T | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.080 | 7 | 55160316 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.790 | 0.160 | 12 | 132676598 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 14 | 75280415 | 5 prime UTR variant | G/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 2 | 47412433 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.080 | 17 | 7674971 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 1 | 109690516 | missense variant | G/A;C;T | snv | 0.36; 6.9E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 12 | 12926708 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 10 | 102824175 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | X | 127010099 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 12 | 50761880 | upstream gene variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 |