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 | 4 | 110799841 | downstream gene variant | T/G | snv | 0.39 | 0.710 | 1.000 | 2 | 2017 | 2019 | ||||
|
7 | 0.807 | 0.200 | 9 | 117704539 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
74 | 0.555 | 0.760 | 7 | 22726627 | non coding transcript exon variant | G/C | snv | 9.9E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.080 | 16 | 57357856 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
44 | 0.623 | 0.720 | 2 | 203874196 | downstream gene variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
8 | 0.851 | 0.120 | 1 | 154448302 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.200 | 9 | 117712421 | missense variant | A/G | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 |