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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
33 | 0.633 | 0.760 | 1 | 12192898 | missense variant | T/G | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 0.500 | 2 | 2013 | 2013 | |||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 15524368 | 3 prime UTR variant | A/G | snv | 5.6E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.040 | 9 | 85025721 | 3 prime UTR variant | A/G | snv | 0.47 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 9 | 85002156 | intron variant | G/A | snv | 0.74 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
7 | 0.790 | 0.200 | 12 | 6337611 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
27 | 0.672 | 0.560 | 5 | 132674018 | 5 prime UTR variant | C/T | snv | 0.28 | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.790 | 0.360 | 5 | 1266195 | intron variant | A/G | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.776 | 0.440 | 6 | 31810169 | missense variant | C/T | snv | 0.32 | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
61 | 0.570 | 0.760 | 5 | 132673462 | upstream gene variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 5 | 1260080 | intron variant | T/C | snv | 0.33 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.040 | 9 | 85297756 | intergenic variant | C/T | snv | 0.44 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.160 | 11 | 68027885 | synonymous variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.200 | 12 | 6339949 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.280 | 12 | 6338356 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
25 | 0.695 | 0.400 | 22 | 19962712 | synonymous variant | C/T | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 6 | 31816086 | missense variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.807 | 0.040 | X | 43731789 | synonymous variant | G/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 100949682 | intron variant | T/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2004 | 2004 |