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 | 0.120 | 6 | 29967114 | downstream gene variant | A/G | snv | 5.5E-02 | 0.720 | 1.000 | 5 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.120 | 6 | 29950322 | downstream gene variant | G/A;T | snv | 0.710 | 1.000 | 4 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
2 | 1.000 | 0.120 | 6 | 29948728 | downstream gene variant | C/T | snv | 0.66 | 0.700 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.020 | 1.000 | 2 | 2009 | 2018 | |||||
|
3 | 0.882 | 0.160 | X | 51467205 | downstream gene variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
23 | 0.701 | 0.240 | 14 | 53944201 | downstream gene variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | X | 51486831 | downstream gene variant | A/G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.280 | 6 | 29966104 | downstream gene variant | T/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.790 | 0.320 | 6 | 31106253 | downstream gene variant | A/C | snv | 0.66 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 6 | 160160342 | downstream gene variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.120 | 1 | 228862088 | downstream gene variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.120 | 6 | 29938914 | upstream gene variant | A/C;G;T | snv | 0.720 | 1.000 | 3 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.120 | 6 | 29972711 | upstream gene variant | T/C | snv | 0.74 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.120 | 20 | 33235584 | upstream gene variant | T/C;G | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.120 | 6 | 32624960 | upstream gene variant | A/G | snv | 6.9E-02 | 0.710 | 1.000 | 2 | 2010 | 2017 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.160 | 11 | 72814066 | upstream gene variant | C/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 10 | 102392994 | upstream gene variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 29708939 | upstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29710175 | upstream gene variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
26 | 0.667 | 0.680 | 4 | 55126199 | upstream gene variant | A/G | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.732 | 0.440 | 14 | 35405593 | upstream gene variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 |