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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 21494497 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 65703996 | non coding transcript exon variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1 | 75640990 | downstream gene variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 1 | 119714953 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 200273504 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1 | 46938514 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 119749667 | intron variant | T/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
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 | |||
|
2 | 2 | 168910638 | intron variant | T/C | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 44964941 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 73591809 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 2 | 172727935 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
19 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 2 | 210752170 | intergenic variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.851 | 0.120 | 2 | 146120964 | regulatory region variant | T/C | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 2 | 168907981 | missense variant | T/C | snv | 5.1E-03 | 3.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
18 | 0.851 | 0.120 | 2 | 21176344 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
21 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.851 | 0.120 | 2 | 27263727 | intron variant | G/C | snv | 5.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.763 | 0.280 | 2 | 233759924 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 |