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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.773 | 22 | 2006 | 2020 | |||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.850 | 1.000 | 7 | 2008 | 2017 | |||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.820 | 1.000 | 3 | 2006 | 2017 | ||||
|
5 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.820 | 0.667 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.080 | 19 | 33259408 | intergenic variant | G/A | snv | 0.14 | 0.820 | 1.000 | 2 | 2009 | 2019 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 3 | 2012 | 2016 | ||||
|
3 | 0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
10 | 0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 | 0.810 | 1.000 | 3 | 2012 | 2017 | ||||
|
5 | 0.882 | 0.120 | 14 | 88006251 | intron variant | C/T | snv | 0.18 | 0.810 | 1.000 | 3 | 2012 | 2019 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.810 | 1.000 | 2 | 2012 | 2016 | |||||
|
5 | 0.851 | 0.240 | 10 | 79300560 | intron variant | C/A | snv | 0.27 | 0.810 | 1.000 | 2 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.040 | 12 | 68106295 | intron variant | G/A | snv | 0.32 | 0.810 | 1.000 | 2 | 2012 | 2020 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2008 | 2012 | |||||
|
2 | 1.000 | 0.080 | 22 | 30133642 | intron variant | C/A | snv | 0.54 | 0.810 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 16 | 28826194 | intron variant | T/C;G | snv | 0.38 | 0.810 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
7 | 0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2012 | 2017 | |||||
|
5 | 0.851 | 0.160 | 17 | 39756124 | downstream gene variant | C/T | snv | 0.37 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
2 | 1.000 | 0.040 | 5 | 96917099 | intron variant | G/A | snv | 0.38 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
5 | 0.882 | 0.200 | 7 | 50264865 | upstream gene variant | C/T | snv | 0.67 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
4 | 0.882 | 0.120 | 6 | 14719265 | intron variant | G/A | snv | 0.74 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
12 | 0.763 | 0.240 | 15 | 67150258 | intron variant | C/T | snv | 0.17 | 0.800 | 1.000 | 3 | 2012 | 2017 | ||||
|
3 | 0.925 | 0.040 | 19 | 33240645 | regulatory region variant | G/A | snv | 0.22 | 0.800 | 1.000 | 3 | 2012 | 2017 |