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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
46 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 11 | 112160901 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
7 | 0.790 | 0.480 | 11 | 112165426 | non coding transcript exon variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.708 | 0.360 | 6 | 52185555 | upstream gene variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.790 | 0.320 | 6 | 52189451 | 3 prime UTR variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 |