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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.080 | 13 | 28028203 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.790 | 0.200 | 2 | 61492337 | missense variant | C/T | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.160 | 10 | 87933107 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
19 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
17 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.160 | 10 | 87864168 | 5 prime UTR variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
12 | 0.763 | 0.320 | 11 | 35231725 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
19 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 3 | 46370817 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.776 | 0.320 | 6 | 31572779 | missense variant | T/C | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
17 | 0.732 | 0.320 | 6 | 31572364 | 5 prime UTR variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 9 | 133424254 | intron variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
8 | 0.807 | 0.240 | 4 | 76021790 | 3 prime UTR variant | C/G | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 |