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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.360 | 12 | 102481791 | upstream gene variant | A/C;G;T | snv | 0.040 | 1.000 | 4 | 2015 | 2018 | |||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
9 | 0.776 | 0.360 | 8 | 118952044 | upstream gene variant | G/A | snv | 0.58 | 0.020 | 1.000 | 2 | 2015 | 2016 | ||||
|
4 | 0.882 | 0.120 | 18 | 62414860 | upstream gene variant | A/G | snv | 0.67 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
12 | 0.752 | 0.400 | 8 | 118952831 | upstream gene variant | T/C | snv | 0.17 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
3 | 0.882 | 0.200 | 8 | 118952785 | upstream gene variant | C/T | snv | 9.6E-02 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.200 | 12 | 121132209 | upstream gene variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 11 | 68309770 | upstream gene variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.776 | 0.320 | 8 | 118952749 | upstream gene variant | A/C | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 14 | 103384935 | upstream gene variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 17 | 43768035 | 3 prime UTR variant | C/T | snv | 0.66 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
1 | 1.000 | 0.080 | 1 | 23787639 | 3 prime UTR variant | G/A | snv | 0.64 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
5 | 0.827 | 0.160 | 9 | 117715764 | 3 prime UTR variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 11 | 45882062 | 3 prime UTR variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 17 | 7467286 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23875153 | synonymous variant | G/A | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23874958 | synonymous variant | C/T | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | X | 115629281 | synonymous variant | T/A | snv | 1.5E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 9 | 14720363 | synonymous variant | T/C | snv | 9.2E-02 | 9.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 |