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 | 7 | 100124643 | intron variant | G/A;T | snv | 4.0E-06; 0.26 | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 8 | 100376055 | downstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 100636316 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 100766607 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 100913535 | 3 prime UTR variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 101182070 | regulatory region variant | C/T | snv | 8.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 101236803 | upstream gene variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 101236992 | splice donor variant | G/- | del | 9.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 101239021 | missense variant | C/A;G;T | snv | 4.0E-06; 1.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 101267901 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 101279090 | intergenic variant | C/G | snv | 1.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 12 | 101479462 | intron variant | A/C | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 10161200 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 4 | 102231131 | intergenic variant | T/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 2 | 102470310 | upstream gene variant | A/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 4 | 102633616 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 14 | 102915701 | downstream gene variant | A/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 103263177 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 19 | 10349293 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 105024516 | intron variant | G/A | snv | 0.18 | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 4 | 105166665 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 105204229 | intron variant | TATA/-;TA;TATATA | delins | 6.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 105265604 | 3 prime UTR variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 105971356 | intron variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 |