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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.900 | 1.000 | 41 | 2009 | 2020 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.900 | 1.000 | 18 | 2009 | 2019 | ||||
|
23 | 0.701 | 0.360 | 19 | 39241143 | upstream gene variant | A/G | snv | 0.36 | 0.870 | 1.000 | 9 | 2009 | 2017 | ||||
|
26 | 0.667 | 0.400 | 20 | 3213196 | missense variant | C/A;G | snv | 7.5E-02 | 0.850 | 0.833 | 6 | 2010 | 2020 | ||||
|
5 | 0.851 | 0.240 | 6 | 32710820 | upstream gene variant | C/A;G;T | snv | 0.810 | 1.000 | 2 | 2013 | 2017 | |||||
|
5 | 0.827 | 0.160 | 22 | 31869917 | intron variant | T/G | snv | 0.37 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 135137855 | regulatory region variant | T/G | snv | 0.74 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 46713638 | intron variant | A/G | snv | 0.80 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 20 | 3204477 | intron variant | A/C;T | snv | 7.0E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 20 | 3207087 | upstream gene variant | T/C | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.776 | 0.200 | 20 | 3213247 | intron variant | A/C | snv | 8.7E-02 | 9.7E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
15 | 0.724 | 0.360 | 6 | 32711222 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 20 | 3400902 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 39241107 | upstream gene variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 19 | 39262180 | upstream gene variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.160 | 5 | 179112381 | 3 prime UTR variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.280 | 6 | 32212119 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 4841139 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 39245004 | 5 prime UTR variant | C/G | snv | 0.31 | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 19 | 39255579 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.160 | 22 | 31867176 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | 19 | 39244466 | missense variant | T/C | snv | 0.29 | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 19 | 39252122 | upstream gene variant | C/A | snv | 0.53 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.763 | 0.240 | 6 | 32607958 | intergenic variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.100 | 0.938 | 16 | 2011 | 2019 |