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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.100 | 0.885 | 26 | 1994 | 2019 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.100 | 0.929 | 14 | 2005 | 2017 | |||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.050 | 1.000 | 5 | 2007 | 2019 | |||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.040 | 1.000 | 4 | 2012 | 2017 | ||||
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.040 | 0.750 | 4 | 2008 | 2016 | |||
|
1 | 1.000 | 0.040 | 11 | 113418460 | intron variant | T/C | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2014 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 113412643 | missense variant | T/A;C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 113411553 | non coding transcript exon variant | C/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 113424254 | intron variant | T/C | snv | 0.45 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.080 | 11 | 113420866 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 11 | 113416156 | intron variant | T/C | snv | 0.87 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 11 | 113415768 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 11 | 113411054 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |