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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.200 | 17 | 44253327 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.020 | 1.000 | 2 | 2007 | 2007 | |||
|
9 | 0.790 | 0.120 | X | 48792371 | missense variant | G/A | snv | 9.5E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
4 | 0.882 | 0.120 | 16 | 176755 | synonymous variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 16 | 31528549 | missense variant | T/G | snv | 1.0E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.807 | 0.080 | 11 | 5226943 | stop gained | C/A;G;T | snv | 2.5E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 11 | 5249833 | 5 prime UTR variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 161244 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 177072 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 16 | 172991 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
15 | 0.742 | 0.480 | 10 | 52771739 | upstream gene variant | A/G | snv | 7.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.925 | 0.080 | 2 | 60492835 | intron variant | C/A | snv | 0.80 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.120 | 10 | 95823259 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 1993 | 1993 | |||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 |