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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.120 | 2 | 233772413 | missense variant | T/A;C;G | snv | 2.2E-04 | 0.860 | 1.000 | 11 | 1995 | 2018 | ||||
|
22 | 0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 | 0.800 | 1.000 | 15 | 1995 | 2018 | |||
|
2 | 0.925 | 0.080 | 2 | 233760973 | missense variant | C/A;T | snv | 1.5E-03; 4.4E-05 | 0.730 | 1.000 | 3 | 2001 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 233760534 | missense variant | T/A;C | snv | 8.0E-06 | 0.710 | 1.000 | 6 | 1995 | 2007 | ||||
|
6 | 0.851 | 0.120 | 2 | 233768226 | missense variant | C/G;T | snv | 1.2E-03 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 2 | 233768234 | missense variant | C/G;T | snv | 2.0E-05 | 0.700 | 1.000 | 5 | 1995 | 2007 | ||||
|
2 | 0.925 | 0.080 | 2 | 233767050 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 1995 | 2007 | |||||
|
2 | 0.925 | 0.080 | 2 | 233767873 | stop gained | C/G;T | snv | 4.0E-06; 2.8E-05 | 0.700 | 0 | |||||||
|
16 | 0.708 | 0.400 | 2 | 233760234 | intron variant | TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA | delins | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
3 | 0.882 | 0.080 | 2 | 233761127 | stop gained | C/A;G | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
5 | 0.925 | 0.080 | 2 | 233764816 | intron variant | T/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 2 | 233767903 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
13 | 0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 |