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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2011 | 2014 | |||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 21 | 33026408 | 5 prime UTR variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 113896329 | missense variant | A/G | snv | 0.30 | 0.42 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
7 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.925 | 0.080 | 7 | 151011214 | intron variant | G/T | snv | 0.77 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.851 | 0.160 | 1 | 230702512 | downstream gene variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 21 | 33025263 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 21 | 33028471 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.120 | 21 | 33029641 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |