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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.850 | 1.000 | 5 | 1998 | 2017 | |||||
|
4 | 0.851 | 0.120 | 4 | 54728055 | missense variant | A/C;G | snv | 0.760 | 1.000 | 6 | 2001 | 2014 | |||||
|
6 | 1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 | 0.750 | 1.000 | 5 | 2004 | 2019 | ||||
|
11 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.740 | 0.875 | 4 | 1999 | 2016 | |||||
|
1 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.730 | 1.000 | 3 | 1999 | 2018 | |||||
|
9 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.730 | 1.000 | 3 | 2006 | 2017 | |||||
|
1 | 1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv | 0.730 | 0.900 | 3 | 2005 | 2019 | |||||
|
17 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2005 | 2014 | |||||
|
3 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2007 | 2013 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.030 | 1.000 | 3 | 2004 | 2013 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 2007 | 2014 | |||||
|
51 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2007 | 2014 | |||||
|
4 | 0.882 | 0.240 | 4 | 54733168 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 4 | 54738774 | 3 prime UTR variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 4 | 54727456 | missense variant | T/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 |