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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.040 | 21 | 43169133 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
6 | 0.807 | 0.120 | 15 | 90811275 | synonymous variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.776 | 0.160 | 8 | 31119144 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 12 | 50992197 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 1 | 147908094 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.040 | 1 | 160679109 | missense variant | C/G | snv | 3.3E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
7 | 0.790 | 0.120 | 8 | 31042501 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 8 | 31075099 | intron variant | C/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.120 | 8 | 31043374 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.200 | 21 | 43172104 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 |