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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 0.090 | 1.000 | 9 | 2010 | 2017 | ||||
|
5 | 0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 | 0.040 | 1.000 | 4 | 2015 | 2018 | ||||
|
8 | 0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.080 | 10 | 99873158 | downstream gene variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 60022189 | downstream gene variant | A/G | snv | 8.8E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.160 | 10 | 92450119 | downstream gene variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
20 | 0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 19 | 51223357 | upstream gene variant | G/A | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.160 | 10 | 92574198 | upstream gene variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.200 | 1 | 59926822 | upstream gene variant | C/A | snv | 8.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 89225233 | splice region variant | G/A;C;T | snv | 0.29; 8.0E-06; 4.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins | 0.030 | 0.667 | 3 | 2009 | 2010 | |||||
|
10 | 0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
2 | 0.925 | 0.080 | 8 | 27597169 | 3 prime UTR variant | T/C | snv | 6.2E-02 | 4.7E-02 | 0.020 | 1.000 | 2 | 2013 | 2017 | |||
|
4 | 0.882 | 0.160 | 12 | 10159690 | 3 prime UTR variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 12 | 10158964 | 3 prime UTR variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 8 | 19966452 | 3 prime UTR variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.724 | 0.440 | 15 | 81309441 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 12 | 10159330 | 3 prime UTR variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 |