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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
9 | 0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 12 | 68808776 | intron variant | G/C | snv | 2.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 16 | 28623160 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.160 | X | 67568383 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 7 | 44609201 | intron variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.776 | 0.160 | 10 | 121520052 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.160 | 2 | 38074751 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.827 | 0.200 | 14 | 64227153 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.708 | 0.400 | 14 | 64295199 | intron variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
3 | 0.882 | 0.080 | 16 | 3068864 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.763 | 0.120 | 18 | 75305279 | intergenic variant | G/A | snv | 2.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | X | 67764173 | intergenic variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.080 | 10 | 121515180 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.827 | 0.320 | 7 | 22728600 | non coding transcript exon variant | C/T | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 3 | 84885341 | intron variant | G/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
12 | 0.776 | 0.200 | 17 | 51152947 | upstream gene variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 21648854 | regulatory region variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
78 | 0.547 | 0.760 | 19 | 41354391 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
15 | 0.742 | 0.160 | 15 | 40695330 | 5 prime UTR variant | G/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.160 | 15 | 40695367 | 5 prime UTR variant | G/C;T | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 |