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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 6 | 43312975 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 94538497 | intergenic variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 12 | 115760536 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
8 | 0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 12 | 89675499 | intron variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 89680664 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.040 | 2 | 43650017 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 10 | 103179458 | intron variant | T/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 11 | 58439730 | missense variant | C/G;T | snv | 0.21 | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 11 | 61510226 | 3 prime UTR variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 10 | 103199143 | intergenic variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 5 | 19745606 | intron variant | G/C | snv | 3.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 47565900 | missense variant | C/T | snv | 3.7E-02 | 3.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 7 | 27312031 | intergenic variant | G/A | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 14224308 | intron variant | T/C | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 9 | 83378986 | intron variant | T/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 17217746 | intron variant | A/T | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 7 | 45968511 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1 | 10739520 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1 | 188865413 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 1 | 112688881 | 5 prime UTR variant | G/T | snv | 6.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 103171827 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |