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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.800 | 1.000 | 3 | 2011 | 2018 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.800 | 1.000 | 2 | 2009 | 2018 | |||
|
33 | 0.742 | 0.240 | 11 | 61803311 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
8 | 1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 15 | 40407823 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 21494497 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 9 | 22132699 | downstream gene variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 10 | 89612776 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 0.080 | 3 | 185789511 | intron variant | A/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 3 | 171017310 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 20 | 22611792 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 168910638 | intron variant | T/C | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
16 | 0.851 | 0.120 | 12 | 3060327 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 7 | 17269655 | intron variant | C/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 44964941 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 65703996 | non coding transcript exon variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2016 | 2016 |