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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.030 | 1.000 | 3 | 2013 | 2017 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.030 | 0.667 | 3 | 2016 | 2019 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2019 | 2019 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
3 | 0.882 | 0.120 | 4 | 73739815 | upstream gene variant | T/C | snv | 2.9E-02 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
64 | 0.566 | 0.800 | 4 | 73740307 | upstream gene variant | A/T | snv | 0.46 | 0.020 | 0.500 | 2 | 2015 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 8802974 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 9 | 120980540 | intron variant | G/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.160 | 6 | 52187159 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 9 | 121803541 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 19 | 51623777 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 2 | 218136243 | 3 prime UTR variant | G/A;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 14 | 75347325 | intergenic variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 15 | 78813008 | intron variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 233584238 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 1 | 88159953 | intron variant | A/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 4 | 189616909 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 7 | 135816721 | intron variant | C/T | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 22 | 40635351 | intron variant | A/- | delins | 0.82 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 5 | 111203694 | intergenic variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 17 | 40884835 | stop gained | G/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 3 | 119781817 | 5 prime UTR variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2012 | 2012 |