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 | 14 | 54889676 | intron variant | C/T | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.080 | 2 | 164651879 | downstream gene variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 2 | 101025798 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 85333439 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 202554561 | intron variant | A/G | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 4 | 155207180 | non coding transcript exon variant | T/C | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 7 | 73487060 | intron variant | A/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 50280211 | upstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 7 | 106258428 | intron variant | C/T | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 150876501 | intron variant | G/A;C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 150838529 | intron variant | T/C | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 8 | 19943601 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 15 | 101528701 | upstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 14830944 | intron variant | G/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 19 | 44750234 | intron variant | C/G;T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 19 | 19244291 | intron variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 19064943 | intron variant | T/G | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 19 | 19009572 | intron variant | C/T | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 19047391 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.080 | 19 | 44644419 | intron variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 22 | 24131331 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |