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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.790 | 0.080 | 5 | 162153132 | stop gained | C/T | snv | 0.030 | 1.000 | 3 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.040 | 12 | 51807223 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
14 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2016 | 2019 | |||||
|
4 | 0.882 | 0.160 | 12 | 51807100 | missense variant | C/G;T | snv | 0.720 | 1.000 | 2 | 2019 | 2020 | |||||
|
2 | 1.000 | 0.040 | 10 | 103049727 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 2 | 165130238 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.040 | 5 | 161890983 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 244859303 | stop gained | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 1 | 244856757 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 1 | 244855505 | frameshift variant | AG/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.790 | 0.160 | 19 | 13277122 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 2 | 165386881 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 17 | 81715568 | stop gained | A/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.200 | MT | 3946 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.925 | 0.160 | 12 | 51806788 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
23 | 0.732 | 0.280 | X | 154031409 | missense variant | G/A;T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 16 | 29813554 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 2 | 165380702 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.080 | 5 | 162149153 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 16 | 9829585 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.827 | 0.040 | 16 | 56336744 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 62950522 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 5 | 161882638 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 20 | 63439665 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.851 | 0.080 | 20 | 63442482 | stop gained | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |