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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.716 | 0.280 | 2 | 38075247 | missense variant | G/C | snv | 0.31 | 0.36 | 0.020 | 0.500 | 2 | 2010 | 2014 | |||
|
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 | |||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.020 | 1.000 | 2 | 2002 | 2011 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.867 | 15 | 2006 | 2018 | ||||
|
16 | 0.732 | 0.280 | 2 | 47783349 | missense variant | G/A;C;T | snv | 0.18; 8.6E-06 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
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 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.060 | 0.833 | 6 | 2008 | 2017 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.060 | 1.000 | 6 | 2008 | 2017 | |||
|
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 | |||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
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 | ||||
|
56 | 0.592 | 0.760 | 1 | 225831932 | missense variant | T/C | snv | 0.32 | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
18 | 0.708 | 0.320 | 15 | 60997989 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.538 | 13 | 2005 | 2015 | |||
|
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 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.030 | 1.000 | 3 | 2010 | 2014 |