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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 4 | 73872213 | downstream gene variant | C/A;G | snv | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 19970618 | upstream gene variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.742 | 0.240 | 1 | 159711078 | downstream gene variant | C/T | snv | 0.77 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 3 | 52218953 | non coding transcript exon variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 13 | 69325374 | downstream gene variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.763 | 0.240 | 15 | 58749813 | upstream gene variant | T/C;G | snv | 0.45 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 9557042 | upstream gene variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 2 | 9557277 | upstream gene variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 2 | 9555777 | 5 prime UTR variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.160 | 2 | 9557243 | upstream gene variant | A/C | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 1 | 114693436 | stop gained | G/A;T | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 11 | 116834384 | upstream gene variant | G/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 6 | 106326589 | upstream gene variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.752 | 0.280 | 6 | 106326155 | upstream gene variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.160 | 20 | 38318446 | missense variant | G/A;C | snv | 0.46 | 0.020 | 1.000 | 2 | 2001 | 2014 | ||||
|
2 | 0.925 | 0.080 | 11 | 104892390 | stop lost | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.882 | 0.080 | 21 | 43058387 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 17 | 34254988 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
4 | 0.851 | 0.200 | 5 | 140631730 | 3 prime UTR variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2018 | 2018 |