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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.820 | 1.000 | 4 | 2010 | 2019 | ||||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
11 | 0.763 | 0.480 | 6 | 32696074 | intergenic variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2010 | 2011 | |||||
|
3 | 0.882 | 0.120 | 6 | 32701379 | downstream gene variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.080 | 2 | 219833404 | intergenic variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 137811379 | intergenic variant | T/G | snv | 2.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.200 | 16 | 85985665 | upstream gene variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.160 | 3 | 160595133 | intergenic variant | G/T | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.776 | 0.240 | 10 | 6080046 | intergenic variant | T/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 16 | 85939422 | intron variant | T/C | snv | 0.18 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.320 | 6 | 31382927 | upstream gene variant | C/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 7 | 129068743 | upstream gene variant | T/A | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 129068068 | upstream gene variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 7 | 74123572 | downstream gene variant | T/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
10 | 0.807 | 0.240 | 6 | 31479019 | downstream gene variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.080 | 16 | 85985027 | intron variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 6 | 31513749 | upstream gene variant | G/T | snv | 0.70 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | 6 | 31513522 | upstream gene variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 6 | 31392612 | downstream gene variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | 6 | 31458208 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 11 | 2327389 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |