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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 11 | 65570617 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 6 | 30044563 | intron variant | G/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
9 | 0.790 | 0.200 | 6 | 30037466 | intron variant | A/G | snv | 0.17 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
6 | 0.851 | 0.120 | 6 | 30060575 | non coding transcript exon variant | G/A | snv | 9.8E-02 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
14 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
14 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.280 | 22 | 41635949 | intron variant | C/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 2 | 216146098 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 2 | 216122110 | missense variant | T/A | snv | 3.5E-04 | 1.1E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.827 | 0.120 | 2 | 216188541 | intron variant | T/A | snv | 5.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.689 | 0.480 | 5 | 83353124 | splice acceptor variant | G/A | snv | 0.23 | 0.25 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
1 | 1.000 | 0.080 | 5 | 83111054 | missense variant | G/A | snv | 4.3E-04 | 5.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
19 | 0.689 | 0.280 | 5 | 83204915 | missense variant | G/T | snv | 2.3E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.842 | 19 | 2009 | 2020 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.100 | 0.700 | 10 | 2009 | 2020 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.070 | 0.714 | 7 | 2009 | 2020 | |||
|
3 | 0.882 | 0.120 | 19 | 43545922 | missense variant | C/G | snv | 1.6E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
3 | 0.882 | 0.080 | 19 | 43546923 | synonymous variant | G/A | snv | 1.6E-04 | 1.5E-04 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
8 | 0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.160 | 19 | 43551609 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.851 | 0.120 | 19 | 43551592 | missense variant | C/T | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.120 | 19 | 43544170 | synonymous variant | G/A;C | snv | 6.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.120 | 19 | 43553616 | missense variant | G/A | snv | 1.2E-03 | 4.8E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 |