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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.120 | 19 | 43546062 | missense variant | C/T | snv | 1.2E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
13 | 0.742 | 0.240 | 19 | 43575535 | 5 prime UTR variant | G/A | snv | 0.65 | 0.60 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
6 | 0.807 | 0.160 | 19 | 43570445 | intron variant | T/G | snv | 0.80 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.100 | 0.900 | 10 | 2001 | 2019 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.921 | 38 | 2003 | 2019 | |||
|
5 | 0.827 | 0.120 | 19 | 43553616 | missense variant | G/A | snv | 1.2E-03 | 4.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.120 | 19 | 43544170 | synonymous variant | G/A;C | snv | 6.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
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 | |||
|
6 | 0.807 | 0.160 | 19 | 43551609 | synonymous variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.100 | 0.818 | 22 | 2001 | 2015 | |||
|
7 | 0.790 | 0.120 | 19 | 43543621 | missense variant | G/A;C | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.776 | 0.200 | 19 | 43543490 | missense variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |