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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.807 | 0.160 | 12 | 56421497 | splice region variant | T/C | snv | 0.43 | 0.39 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
15 | 0.724 | 0.240 | 8 | 142681514 | 3 prime UTR variant | G/A | snv | 0.46 | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
19 | 0.701 | 0.360 | 9 | 97697296 | 5 prime UTR variant | T/C;G | snv | 0.63; 4.5E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
13 | 0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.790 | 0.200 | 8 | 142670446 | non coding transcript exon variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 11 | 101128058 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.807 | 0.080 | 2 | 120487546 | intergenic variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.080 | 11 | 69513996 | intergenic variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
53 | 0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 6 | 146312682 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.120 | 19 | 45359191 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 4 | 174925275 | intron variant | C/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 12 | 56435308 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |