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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 2 | 230279864 | intron variant | CTGCCTC/-;CTGCCTCCTGCCTC | delins | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 12 | 74276187 | intron variant | T/C | snv | 1.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 6 | 32932941 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.240 | 6 | 32187804 | intron variant | A/G | snv | 0.24 | 0.26 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.827 | 0.160 | 6 | 33579153 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 6 | 31146796 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.160 | 6 | 31629976 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | 20 | 46073481 | intron variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
12 | 0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.120 | 6 | 31479811 | downstream gene variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 31483132 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.200 | 6 | 31504682 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | 5 | 95896837 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.160 | 8 | 128102971 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.360 | 6 | 31826815 | upstream gene variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 33173503 | missense variant | G/A | snv | 0.12 | 9.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.120 | 6 | 31517397 | downstream gene variant | C/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 33149481 | downstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 33145420 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 6 | 33143570 | upstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.240 | 6 | 32441753 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 6 | 33129784 | downstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 16 | 11105081 | intron variant | G/A;T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 |