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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 15 | 100914748 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
18 | 0.742 | 0.440 | 13 | 101726732 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.200 | 12 | 101753470 | frameshift variant | GA/- | delins | 5.1E-04 | 3.5E-04 | 0.700 | 1.000 | 3 | 2006 | 2014 | |||
|
1 | 1.000 | 0.040 | 10 | 106607970 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 106987949 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 107113002 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 107129809 | intergenic variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 108948641 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 13 | 109501681 | intron variant | T/C | snv | 0.89 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.925 | 0.160 | 13 | 110512039 | missense variant | G/A;C | snv | 5.0E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 5 | 11371193 | intron variant | A/G | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 114202153 | intron variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 114405659 | missense variant | A/G | snv | 0.88 | 0.92 | 0.800 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 114416918 | intron variant | G/A | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114453702 | intron variant | T/C | snv | 0.14 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114456655 | intron variant | G/A | snv | 0.36 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114496497 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 1 | 114498310 | intron variant | C/T | snv | 0.58 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114510087 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 114518963 | intergenic variant | A/G | snv | 0.44 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114531255 | upstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 114537037 | non coding transcript exon variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 1 | 114556471 | intergenic variant | C/T | snv | 0.12 | 0.810 | 1.000 | 1 | 2014 | 2014 |