| 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 | 0.080 | 16 | 31191431 | missense variant | C/T | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 2011 | 2019 | ||||
|
8 | 0.790 | 0.120 | 16 | 31191418 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.090 | 1.000 | 9 | 2010 | 2017 | ||||
|
6 | 0.851 | 0.120 | 16 | 31191419 | missense variant | G/A;T | snv | 4.0E-06 | 0.080 | 1.000 | 8 | 2010 | 2017 | ||||
|
2 | 0.925 | 0.080 | 16 | 31191052 | stop gained | C/T | snv | 8.1E-06 | 0.080 | 1.000 | 8 | 2010 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 31191410 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 31189149 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 31191409 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 31186825 | missense variant | A/G | snv | 1.2E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 16 | 31182593 | missense variant | G/C | snv | 6.8E-05 | 3.3E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.080 | 16 | 31184986 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 16 | 31191033 | synonymous variant | C/T | snv | 1.1E-03 | 7.3E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 16 | 31184974 | missense variant | G/A;T | snv | 8.0E-06; 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.080 | 16 | 31183971 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 16 | 31185103 | missense variant | G/T | snv | 1.3E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 16 | 31183878 | missense variant | A/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 16 | 31191429 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 |