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 | 0.925 | 0.040 | 15 | 69934284 | intergenic variant | G/A | snv | 0.95 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 22 | 19966309 | intron variant | A/G | snv | 0.88 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 22 | 23285182 | missense variant | A/G | snv | 0.81 | 0.86 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
7 | 0.851 | 0.120 | 12 | 117937681 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 11 | 6321099 | intron variant | T/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 3 | 120059642 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.040 | 8 | 32719327 | intron variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 6 | 35654004 | intron variant | G/A | snv | 0.74 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.925 | 0.040 | 9 | 24520196 | intergenic variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.925 | 0.040 | 11 | 27672444 | intron variant | C/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.807 | 0.080 | 13 | 46837850 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.763 | 0.080 | 6 | 35599305 | intron variant | A/G | snv | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 3 | 4989276 | downstream gene variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 7 | 147904680 | intron variant | T/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 11 | 99625823 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.040 | 2 | 184936178 | missense variant | A/T | snv | 0.66 | 0.59 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 8 | 32571241 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 12 | 94032692 | regulatory region variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
17 | 0.724 | 0.320 | 12 | 72022455 | synonymous variant | A/T | snv | 0.57 | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.807 | 0.320 | 11 | 113410675 | 3 prime UTR variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 7 | 117883655 | non coding transcript exon variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 8 | 10964921 | intron variant | G/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 |