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 | 0.827 | 0.120 | 4 | 6291188 | intron variant | A/G | snv | 0.66 | 0.63 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.070 | 1.000 | 7 | 2006 | 2020 | |||||
|
10 | 0.776 | 0.280 | 10 | 113149972 | intron variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.040 | 17 | 17824729 | intron variant | A/G | snv | 0.64 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 46769424 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.360 | 10 | 67906841 | synonymous variant | T/C | snv | 0.11 | 7.1E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.120 | 17 | 80691605 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.851 | 0.200 | 10 | 87864461 | 5 prime UTR variant | C/G | snv | 3.8E-03 | 1.4E-03 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
7 | 0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.020 | 1.000 | 2 | 2006 | 2018 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2018 | |||||
|
11 | 0.776 | 0.160 | 3 | 12434111 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
41 | 0.637 | 0.440 | 3 | 12434058 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 5 | 68270365 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.240 | 16 | 30756714 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
3 | 0.882 | 0.080 | 1 | 162368607 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.120 | 2 | 181678138 | missense variant | G/A;C | snv | 8.0E-06; 8.4E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.827 | 0.160 | 3 | 38142530 | 3 prime UTR variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.752 | 0.160 | 15 | 43824536 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.120 | 18 | 60371884 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2017 |