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 | 11 | 94500021 | downstream gene variant | C/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 11 | 62293877 | downstream gene variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 8 | 64550885 | downstream gene variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 19 | 17401603 | upstream gene variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.925 | 11 | 119032329 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 22 | 39087839 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 0.882 | 0.080 | 13 | 24740488 | upstream gene variant | G/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 22 | 39100318 | inframe deletion | CAA/- | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
23 | 0.695 | 0.240 | 11 | 320772 | splice region variant | A/G | snv | 0.13 | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.925 | 7 | 25568789 | TF binding site variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.020 | 1.000 | 2 | 2015 | 2016 | |||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||
|
12 | 0.752 | 0.360 | 6 | 29830972 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 12 | 47842624 | 3 prime UTR variant | TTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT | delins | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 5 | 157086333 | 3 prime UTR variant | G/A | snv | 0.79 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.925 | 5 | 138446426 | 3 prime UTR variant | T/G | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 19 | 17403172 | 3 prime UTR variant | T/G | snv | 0.92 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.790 | 0.160 | 7 | 44796715 | 5 prime UTR variant | A/G;T | snv | 0.26; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.851 | 0.040 | 14 | 22168978 | synonymous variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
16 | 0.732 | 0.320 | 2 | 136115226 | synonymous variant | C/T | snv | 4.0E-06 | 4.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 11 | 108046360 | synonymous variant | A/G | snv | 0.68 | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.732 | 0.320 | 2 | 136115082 | synonymous variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 |