| 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 | 1.000 | 0.080 | 12 | 38349706 | intergenic variant | G/A | snv | 0.62 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 18793883 | intergenic variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 2 | 5092045 | intergenic variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 88105563 | intergenic variant | G/A | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 79310483 | intron variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 80146584 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 10 | 21003994 | intron variant | C/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 6 | 32665055 | missense variant | A/C;T | snv | 0.77 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 1 | 209942767 | intron variant | G/A | snv | 0.92 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.200 | 6 | 32338202 | intron variant | G/T | snv | 0.83 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.200 | 12 | 78807293 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.800 | 1.000 | 2 | 2009 | 2019 |