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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 1 | 45330597 | intron variant | G/C | snv | 0.92 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.160 | 6 | 43755598 | intergenic variant | A/C | snv | 0.88 | 0.040 | 1.000 | 4 | 2007 | 2019 | ||||
|
6 | 0.807 | 0.160 | 19 | 43570445 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
12 | 0.752 | 0.200 | 7 | 148827660 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.120 | 4 | 1732512 | intron variant | T/C | snv | 0.76 | 0.770 | 0.889 | 9 | 2010 | 2017 | ||||
|
11 | 0.752 | 0.160 | 5 | 287899 | intron variant | T/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 17 | 73016334 | intron variant | G/C | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.120 | 7 | 148808210 | intron variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.615 | 13 | 2004 | 2016 | |||
|
9 | 0.827 | 0.240 | 8 | 18415371 | regulatory region variant | G/A | snv | 0.71 | 0.720 | 1.000 | 4 | 2010 | 2016 | ||||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.050 | 1.000 | 5 | 2012 | 2018 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.776 | 0.280 | 16 | 346264 | synonymous variant | A/G | snv | 0.61 | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 17 | 73010373 | intron variant | A/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
23 | 0.701 | 0.400 | 15 | 74749576 | intron variant | C/A | snv | 0.67 | 0.030 | 1.000 | 3 | 2015 | 2016 | ||||
|
16 | 0.716 | 0.320 | 8 | 47858141 | intron variant | C/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.100 | 1.000 | 11 | 2005 | 2016 | |||
|
13 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.807 | 0.160 | 1 | 11262099 | intron variant | A/G | snv | 0.63 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.120 | 18 | 45737317 | intron variant | T/C | snv | 0.61 | 0.710 | 1.000 | 2 | 2013 | 2014 | ||||
|
2 | 0.925 | 0.120 | 18 | 45737001 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 19 | 43573355 | intron variant | G/A | snv | 0.60 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 19 | 43554087 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 |