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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.807 | 0.240 | 4 | 154604124 | downstream gene variant | G/A | snv | 0.26 | 0.860 | 0.900 | 10 | 2011 | 2019 | ||||
|
2 | 1 | 169511883 | downstream gene variant | T/A | snv | 0.91 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169511938 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169508336 | downstream gene variant | A/C | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169510736 | downstream gene variant | C/T | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 5 | 171724227 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 8 | 64970119 | downstream gene variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170366687 | downstream gene variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 49093547 | downstream gene variant | C/G | snv | 7.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 23070169 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 23068910 | downstream gene variant | G/A | snv | 0.88 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 4 | 154580036 | downstream gene variant | -/CA | delins | 4.2E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 9 | 133320327 | downstream gene variant | T/A;G | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 206173141 | downstream gene variant | G/A | snv | 6.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.080 | 4 | 154580036 | downstream gene variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1 | 169508867 | downstream gene variant | A/G | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 32900360 | downstream gene variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 4 | 154599778 | downstream gene variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 4 | 186264231 | upstream gene variant | A/T | snv | 0.36 | 0.810 | 1.000 | 3 | 2011 | 2014 | ||||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.800 | 1.000 | 3 | 2011 | 2019 | ||||
|
2 | 4 | 186264957 | upstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
5 | 0.925 | 0.120 | 9 | 133279871 | upstream gene variant | T/C | snv | 0.49 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
10 | 1.000 | 0.080 | 9 | 133278860 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
22 | 0.851 | 0.160 | 9 | 133278431 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 |