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 | 0.925 | 0.160 | 12 | 51915483 | missense variant | G/A | snv | 0.800 | 1.000 | 21 | 1996 | 2015 | |||||
|
3 | 0.882 | 0.160 | 12 | 51916219 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 19 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 51916113 | missense variant | A/G | snv | 0.800 | 1.000 | 19 | 1996 | 2015 | |||||
|
3 | 0.882 | 0.160 | 12 | 51916218 | missense variant | C/T | snv | 0.800 | 1.000 | 18 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.160 | 12 | 51920817 | missense variant | G/A;C | snv | 0.800 | 1.000 | 17 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 12 | 51913187 | missense variant | G/T | snv | 0.800 | 1.000 | 17 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 12 | 51916180 | missense variant | T/A | snv | 0.800 | 1.000 | 15 | 1996 | 2015 | |||||
|
4 | 0.851 | 0.160 | 12 | 51920831 | missense variant | C/G;T | snv | 0.800 | 1.000 | 15 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 12 | 51916114 | missense variant | T/G | snv | 0.800 | 1.000 | 15 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.160 | 12 | 51916107 | missense variant | C/A;T | snv | 0.800 | 1.000 | 14 | 1997 | 2016 | |||||
|
2 | 0.925 | 0.160 | 12 | 51914445 | missense variant | G/A | snv | 0.800 | 1.000 | 13 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.120 | 12 | 51913237 | missense variant | G/A;C | snv | 0.800 | 1.000 | 13 | 1997 | 2014 | |||||
|
2 | 0.925 | 0.160 | 12 | 51916108 | missense variant | G/A;C | snv | 4.0E-06 | 1.4E-05 | 0.800 | 1.000 | 9 | 2000 | 2016 | |||
|
2 | 0.925 | 0.160 | 12 | 51919008 | missense variant | C/A;T | snv | 0.800 | 1.000 | 3 | 1997 | 2011 | |||||
|
1 | 1.000 | 0.120 | 12 | 51916122 | missense variant | G/A | snv | 8.0E-06 | 0.800 | 1.000 | 2 | 2000 | 2011 | ||||
|
1 | 1.000 | 0.120 | 12 | 51915450 | missense variant | G/T | snv | 0.800 | 1.000 | 2 | 2000 | 2011 | |||||
|
1 | 1.000 | 0.120 | 12 | 51913984 | missense variant | A/C | snv | 1.7E-04 | 8.4E-05 | 0.700 | 1.000 | 15 | 1996 | 2015 | |||
|
2 | 0.925 | 0.160 | 12 | 51920841 | missense variant | A/C | snv | 0.700 | 1.000 | 13 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.160 | 12 | 51916183 | missense variant | G/C;T | snv | 0.700 | 1.000 | 13 | 1996 | 2015 | |||||
|
2 | 1.000 | 0.120 | 12 | 51920826 | missense variant | C/T | snv | 1.6E-03 | 2.0E-03 | 0.700 | 1.000 | 13 | 1996 | 2015 | |||
|
1 | 1.000 | 0.120 | 12 | 51913233 | missense variant | C/T | snv | 2.8E-05 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 51914456 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 12 | 51914511 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
3 | 0.882 | 0.160 | 12 | 51920816 | stop gained | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 2004 | 2014 | ||||
|
1 | 1.000 | 0.120 | 12 | 51919061 | frameshift variant | -/TG | delins | 0.700 | 1.000 | 9 | 2004 | 2014 |