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 | 14 | 100835958 | non coding transcript exon variant | C/G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 101314378 | intron variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 102176300 | 3 prime UTR variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
13 | 0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 1 | 103000497 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 109152533 | intergenic variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
13 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 9 | 114143263 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 114146866 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 0.925 | 0.200 | 9 | 114361470 | intron variant | C/A;T | snv | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 114362451 | missense variant | G/A | snv | 0.49 | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 4 | 115123255 | intergenic variant | C/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 2 | 118844296 | non coding transcript exon variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.925 | 0.120 | 12 | 123321672 | missense variant | C/T | snv | 0.19 | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 12 | 123350686 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 10 | 126036209 | synonymous variant | A/G | snv | 0.27 | 0.26 | 0.030 | 0.667 | 3 | 2014 | 2017 | |||
|
2 | 0.925 | 0.040 | 10 | 126064909 | missense variant | G/A;C | snv | 0.27 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 10 | 126093840 | intron variant | C/A;T | snv | 0.020 | 0.500 | 2 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.120 | 10 | 126330456 | missense variant | C/A;G | snv | 2.1E-03; 0.56 | 0.050 | 0.600 | 5 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 143903707 | downstream gene variant | C/T | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 12 | 14885985 | intron variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 |