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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 6 | 2009 | 2015 | ||||
|
8 | 0.851 | 0.080 | 2 | 233764663 | intron variant | C/T | snv | 0.36 | 0.800 | 1.000 | 5 | 2011 | 2019 | ||||
|
2 | 0.807 | 0.240 | 2 | 233763993 | intron variant | G/T | snv | 0.36 | 0.800 | 1.000 | 4 | 2009 | 2015 | ||||
|
7 | 0.925 | 0.040 | 2 | 233765830 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 3 | 2012 | 2019 | ||||
|
1 | 0.701 | 0.440 | 2 | 233760498 | missense variant | G/A | snv | 2.2E-02 | 9.2E-03 | 0.800 | 1.000 | 2 | 2010 | 2013 | |||
|
2 | 2 | 233749231 | intron variant | T/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2009 | 2015 | ||||||
|
2 | 2 | 233749337 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 1 | 2009 | 2015 | ||||||
|
2 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.800 | 1.000 | 1 | 2009 | 2015 | ||||||
|
2 | 2 | 233757136 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||||
|
2 | 2 | 233755414 | non coding transcript exon variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2015 | |||||||
|
2 | 2 | 233745803 | intron variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||||
|
2 | 2 | 233747994 | non coding transcript exon variant | T/C | snv | 0.37 | 0.800 | 1.000 | 1 | 2009 | 2015 | ||||||
|
1 | 2 | 233730664 | intron variant | G/A | snv | 0.42 | 0.800 | 1.000 | 1 | 2009 | 2013 | ||||||
|
2 | 2 | 233740656 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||||
|
2 | 2 | 233744071 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 233750415 | intron variant | A/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 0.040 | 2 | 233729143 | missense variant | A/G | snv | 3.5E-03 | 1.1E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 2 | 233762816 | intron variant | G/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2009 | 2018 | ||||||
|
2 | 2 | 233741916 | non coding transcript exon variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 233755941 | non coding transcript exon variant | CTCT/-;CT | delins | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2015 | |||||
|
2 | 2 | 233764593 | intron variant | G/A;T | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 233764076 | intron variant | T/A;G | snv | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||||
|
5 | 1.000 | 2 | 233735091 | intron variant | A/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 2 | 233746667 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2015 |