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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 0.959 | 387 | 2003 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.956 | 367 | 2003 | 2019 | |||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.070 | 0.857 | 7 | 2004 | 2019 | ||||
|
4 | 0.925 | 0.120 | 7 | 140800651 | intron variant | T/A | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
2 | 1.000 | 0.080 | 7 | 140914412 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
31 | 0.653 | 0.320 | 7 | 140753336 | missense variant | AC/CT;TT | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.851 | 0.240 | 7 | 140753339 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 7 | 140792239 | intron variant | T/C | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 140858940 | intron variant | G/C | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 140806604 | intron variant | T/A | snv | 5.5E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 7 | 140926036 | upstream gene variant | A/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 140925302 | upstream gene variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 |