| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.829 | 70 | 1999 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.806 | 31 | 2002 | 2019 | |||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.100 | 0.818 | 11 | 2006 | 2019 | |||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.060 | 0.833 | 6 | 2008 | 2019 | |||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 11800285 | synonymous variant | G/T | snv | 9.9E-05 | 1.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.790 | 0.240 | 1 | 11795191 | missense variant | C/A;G | snv | 1.8E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 11794397 | synonymous variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
10 | 0.752 | 0.280 | 1 | 11786195 | 3 prime UTR variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 11803027 | synonymous variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.790 | 0.160 | 1 | 11794822 | missense variant | C/G;T | snv | 8.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
20 | 0.683 | 0.480 | 1 | 11802157 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 |